Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-2 du 7 au 20 janvier 2020 (January 7 to 20, 2020)

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Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la « Veille Neuromusculaire » contient les dernières références intégrées dans Pubmed. La liste des pathologies concernées par cette veille est issue des Fiches Techniques Savoir & Comprendre publiées par l'AFM-Téléthon intitulées « Principales maladies neuromusculaires » (Novembre 2017) et « Recherche Neuromusculaire : Etat des lieux, 6ème Edition » (Septembre 2018). Vous trouverez les veilles précédentes sur notre portail documentaire dédié aux maladies neuromusculaires Myobase Every two weeks, the AFM documentation service publishes the “Neuromuscular Bibliography” in which you will find latest references published in Pubmed. The list of diseases below comes from both resources: « Principales maladies neuromusculaires » (November 2017) and « Recherche Neuromusculaire : Etat des lieux, 6ème Edition » (September 2018) published by AFM-Téléthon in Fiches Techniques Savoir & Comprendre Serie. Previous reports are available on Myobase, the informations tool about neuromuscular diseases.

Sommaire par maladies / diseases

Amyotrophies spinales – Spinal amyotrophies ........................................................................................... 3 Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) .............. 3 Dystrophies musculaires congénitales – Congenital muscular dystrophies ........................................... 5 Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ......................................................................................................................................... 6 Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ......................................... 9 Dystroglycanopathies – Dystroglycanopathies ......................................................................................... 10 Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 10 Dystrophies myotoniques – Myotonic dystrophies ................................................................................... 10 Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva ....................... 12 Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ............................................................ 12 Maladie de Brody – Brody disease .............................................................................................................. 13 Myasthénie autoimmune – Myasthenia gravis ........................................................................................... 13 Myopathies congénitales – Congenital myopathies .................................................................................. 16 Myopathies inflammatoires – Inflammatory myopathies .......................................................................... 18 Maladie de Pompe – Pompe disease ........................................................................................................... 24 Lipidoses musculaires – Lipid myopathies ................................................................................................ 25 Myopathies mitochondriales – Mitochondrial myopathies ....................................................................... 26 Myopathies myofibrillaires – Myofibrillar myopathies............................................................................... 27 Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome ..................................... 27 Syndrome de Lambert-Eaton – Lambert-eaton myasthenic syndrome ................................................... 27 Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) .......................... 28 Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ................. 28 Divers – Miscellaneous ................................................................................................................................. 30

Sommaire par spécialités / specialties Anatomopathologie – Anatomical pathology ............................................................................................. 33 Cardiologie – Cardiology .............................................................................................................................. 33 Myographie – Myography ............................................................................................................................. 34

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-2 du 7 au 20 janvier 2020 (January 7 to 20, 2020)

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Gastroentérologie / Nutrition – Gastroenterology / Nutrition ................................................................... 35 Imagerie médicale du muscle – Muscle medical imaging ......................................................................... 36 Médecine physique et de réadaptation – Physical and rehabilitation medicine ..................................... 37 Nephrologie – Nephrology ............................................................................................................................ 37 Pneumologie – Pulmonogy .......................................................................................................................... 37

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-2 du 7 au 20 janvier 2020 (January 7 to 20, 2020)

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Amyotrophies spinales – Spinal amyotrophies 1. Neuromuscul Disord. 2019 Nov 14. pii: S0960-8966(19)31173-3. [Epub ahead of print]

X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype. Shaughnessy N1, Forman EB2, O'Rourke D2, Lynch SA3, Lynch B2. 1Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland. Electronic address: niamh.shaughnessy@cuh.ie. 2Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland. 3Department of Clinical Genetics, Children's University Hospital, Temple Street, Dublin, Ireland. KEYWORDS: Arthrogryposis; Contractures; Motor neuronopathy; UBA1 gene; X-linked spinal muscular atrophy (SMAX2) PMID: 31932168 DOI:10.1016/j.nmd.2019.11.004

2. Spine Deform. 2020 Jan 8. doi: 10.1007/s43390-019-00003-5. [Epub ahead of print] The value of preoperative labs in identifying "at-risk" patients for developing surgical site infections after pediatric neuromuscular spine deformity surgery. Furdock R1, Luhmann SJ2,3. 1Department of Orthopedic Surgery, Washington University School of Medicine, St Louis, MO, USA. 2Department of Orthopedic Surgery, Washington University School of Medicine, St Louis, MO, USA. luhmanns@wustl.edu. 3St Louis Children's Hospital, 1 Children's Place, Suite 4S60, St. Louis, MO, 63110, USA. luhmanns@wustl.edu. KEYWORDS: At-risk; Deformity; Labs; Spine; Surgical site infections PMID: 31925757 DOI: 10.1007/s43390-019-00003-5

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) 3. Orphanet J Rare Dis. 2020 Jan 10;15(1):8. doi: 10.1186/s13023-019-1287-y.

Management and current status of spinal muscular atrophy: a retrospective multicentre claims database analysis. Darbà J1. 1Department of Economics, Universitat de Barcelona, Diagonal 696, 08034, Barcelona, Spain. darba@ub.edu. KEYWORDS: Claims database analysis; Disease management; Patient demographics; Spain; Spinal muscular atrophy PMID: 31924248 PMCID: PMC6954571 DOI:10.1186/s13023-019-1287-y

4. Int J Pediatr Otorhinolaryngol. 2019 Dec 18;130:109818. doi: 10.1016/j.ijporl.2019.109818. [Epub ahead of print] Trajectory of change in the swallowing status in spinal muscular atrophy type I. Choi YA1, Suh DI2, Chae JH2, Shin HI3. 1Department of Rehabilitation Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Republic of Korea. 2Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. 3Department of Rehabilitation Medicine, Seoul National University Hospital, College of Medicine, Seoul National University, Republic of Korea. Electronic address: hyungik1@snu.ac.kr. KEYWORDS: Aspiration pneumonia; Deglutition; Deglutition disorders; Dysphagia; Gastrostomy; Spinal muscular atrophy; Videofluoroscopic swallowing study PMID: 31945686 DOI:10.1016/j.ijporl.2019.109818

5. Eur J Phys Rehabil Med. 2020 Jan 14. doi: 10.23736/S1973-9087.20.05968-7. [Epub ahead of print] The ICF-CY as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study. Trabacca A1, Lucarelli E2, Pacifico R2, Vespino T2, Di Liddo A2, Losito L2. 1Unit for Severe Disabilities in Developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), Scientific Institute I.R.C.C.S. "E. Medea", Brindisi, Italy - antonio.trabacca@lanostrafamiglia.it. 2Unit for Severe Disabilities in Developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), Scientific Institute I.R.C.C.S. "E. Medea", Brindisi, Italy. PMID: 31939268 DOI:10.23736/S1973-9087.20.05968-7

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-2 du 7 au 20 janvier 2020 (January 7 to 20, 2020)

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6. Pediatr Neurol Briefs. 2019 Dec 31;33:5. doi: 10.15844/pedneurbriefs-33-5. Spinal Muscular Atrophy Diagnosed by Newborn Screening. Lopez-Chacon M1,2, Buehner AN1, Rao VK1,2. 1Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL. 2Department of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL. Comment on Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. [J Neuromuscul Dis. 2018] Available in Myobase : http://www.myobase.org/index.php?lvl=notice_display&id=65380 KEYWORDS: Guidelines; Newborn Screening; Spinal Muscular Atrophy PMID: 31929716 PMCID:PMC6942550 DOI:10.15844/pedneurbriefs-33-5

7. iScience. 2019 Dec 28;23(1):100809. doi: 10.1016/j.isci.2019.100809. [Epub ahead of print] Splicing Defects of the Profilin Gene Alter Actin Dynamics in an S. pombe SMN Mutant. Antoine M1, Patrick KL2, Soret J1, Duc P1, Rage F1, Cacciottolo R3, Nissen KE2, Cauchi RJ3, Krogan NJ2, Guthrie C2, Gachet Y4, Bordonné R5. 1Institut de Génétique Moléculaire de Montpellier, University of Montpellier, CNRS, Montpellier, France. 2University of California, San Francisco, CA 94143, USA. 3Department of Physiology and Biochemistry, University of Malta, Msida, Malta. 4Centre de Biologie Integrative, University of Toulouse, CNRS, Toulouse, France. 5Institut de Génétique Moléculaire de Montpellier, University of Montpellier, CNRS, Montpellier, France. Electronic address: remy.bordonne@igmm.cnrs.fr. KEYWORDS: Biological Sciences; Cell Biology; Molecular Biology; Molecular Genetics PMID: 31927482 PMCID:PMC6957872 DOI:10.1016/j.isci.2019.100809

8. Neurol Neurochir Pol. 2020 Jan 10. doi: 10.5603/PJNNS.a2019.0068. [Epub ahead of print] Spinal muscular atrophy - new therapies, new challenges. Jędrzejowska M1, Kostera-Pruszczyk A2. 1Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawińskiego 5, 02-106 Warsaw, Poland. 2Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland. anna.kostera-pruszczyk@wum.edu.pl. KEYWORDS: SMN protein; SMN1 gene; gene therapy; nusinersen; spinal muscular atrophy PMID: 31922583 DOI:10.5603/PJNNS.a2019.0068

9. Front Genet. 2019 Dec 17;10:1255. doi: 10.3389/fgene.2019.01255. eCollection 2019. Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry. Lin Y1,2, Lin CH3, Yin X4, Zhu L5, Yang J1, Shen Y6, Yang C7, Chen X7, Hu H8, Ma Q8, Shi X9, Shen Y1, Hu Z1, Huang C10, Huang X1. 1Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China. 2Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, Quanzhou, China. 3Department of Research and Development, Feng Chi Biotech Corp, Taipei, Taiwan. 4Department of Clinical Psychology, School of Health in Social Science, The University of Edinburg, Edinburg, United Kingdom. 5Department of Translational Medicine, Hangzhou Genuine Clinical Laboratory Co. Ltd, Hangzhou, China. 6Neonatal Disease Screening Center, Huaihua Maternal and Child Health Hospital, Huaihua, China. 7Neonatal Disease Screening Center, Jining Maternal and Child Health Family Service Center, Jining, China. 8Neonatal Disease Screening Center, Hefei Women and Children's Health Care Hospital, Hefei, China. 9Department of Pediatrics, Yancheng Maternity and Child Health Care Hospital, Yancheng, China. 10Research and Development Center, Zhejiang Biosan Biochemical Technologies Co., Ltd, Hangzhou, China. KEYWORDS: Agena iPLEX assay; MassARRAY genotyping; SMN1; SMN2; newborn screening; spinal muscular atrophy PMID: 31921298 PMCID:PMC6928056 DOI:10.3389/fgene.2019.01255

10. Pediatr Int. 2020 Jan 9. doi: 10.1111/ped.14047. [Epub ahead of print] Case of spinal muscular atrophy type 0 with mild prognosis. Kitaoka H1, Shitara Y1, Uchida Y1, Kondo U1, Omori I1.

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-2 du 7 au 20 janvier 2020 (January 7 to 20, 2020)

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1Department of Neonatology, Tokyo Metropolitan Bokutoh Hospital, Tokyo, Japan. KEYWORDS: SMN gene; claw hand; neonatal hypotonia; nusinersen; paradoxical breathing PMID: 31916364 DOI:10.1111/ped.14047

11. FASEB J. 2019 Dec 31. doi: 10.1096/fj.201802554RRR. [Epub ahead of print] Drosophila SMN2 minigene reporter model identifies moxifloxacin as a candidate therapy for SMA. Konieczny P1,2,3, Artero R1,2,3. 1Interdisciplinary Research Structure for Biotechnology and Biomedicine (ERI BIOTECMED), University of Valencia, Valencia, Spain. 2Translational Genomics Group, Incliva Health Research Institute, Valencia, Spain. 3Incliva-CIPF Joint Unit, Valencia, Spain. KEYWORDS: SMA; SMN2; drug repurposing; splicing PMID: 31909520 DOI:10.1096/fj.201802554RRR

12. BMJ Paediatr Open. 2019 Dec 5;3(1):e000572. doi: 10.1136/bmjpo-2019-000572. eCollection 2019. Healthcare utilisation in children with SMA type 1 treated with nusinersen: a single centre retrospective review. Ali I1, Gilchrist FJ1,2, Carroll WD1,2, Alexander J1, Clayton S1, Kulshrestha R3, Willis T3, Samuels M1. 1Paediatric Respiratory Service, University Hospital of North Midlands NHS Trust, Stoke-on-Trent, UK. 2Institute of Applied Clinical Science, Keele University, Keele, UK. 3Muscle Team, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, UK. KEYWORDS: costing; neurodisability; neuromuscular; respiratory PMID: 31909224 PMCID: PMC6937078 DOI:10.1136/bmjpo-2019-000572

13. J Neurochem. 2020 Jan 6:e14953. doi: 10.1111/jnc.14953. [Epub ahead of print] Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy. Kessler T1,2, Latzer P2, Schmid D2,3, Warnken U4, Saffari A5, Ziegler A5, Kollmer J6, Möhlenbruch M6, Ulfert C6, Herweh C6, Wildemann B1, Wick W1,2, Weiler M1. 1Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany. 2Clinical Cooperation Unit Neurooncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany. 3Medical Faculty, University of Heidelberg, Heidelberg, Germany. 4Functional Proteomic Analysis, German Cancer Research Center (DKFZ), Heidelberg, Germany. 5Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany. 6Department of Neuroradiology, Heidelberg University Hospital, Heidelberg, Germany. KEYWORDS: antisense oligonucleotide (ASO); cerebrospinal fluid (CSF); mass spectrometry (MS); nusinersen; proteomics; spinal muscular atrophy (SMA) PMID: 31903607 DOI:10.1111/jnc.14953

Dystrophies musculaires congénitales – Congenital muscular dystrophies 14. Neuromuscul Disord. 2019 Nov 5. pii: S0960-8966(19)31165-4. [Epub ahead of print]

Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients. Chan SH1, Ho RS2, Khong PL3, Chung BH4, Tsang MH4, Yu MH4, Yeung MC2, Chan AO2, Fung CW4. 1Department of Pediatrics and Adolescent Medicine, LKS Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong Special Administrative Region. Electronic address: sophehs@hku.hk. 2Department of Pathology and Clinical Biochemistry, Queen Mary Hospital, Hong Kong Special Administrative Region. 3Department of Radiology, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region. 4Department of Pediatrics and Adolescent Medicine, LKS Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong Special Administrative Region. KEYWORDS: CHKB; Giant mitochondria; Megaconial CMD; Megaconial congenital muscular dystrophy; Muscle biopsy PMID: 31926838 DOI:10.1016/j.nmd.2019.10.009

Bibliographie sur les maladies neuromusculaires

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15. Clin Genet. 2020 Jan 7. doi: 10.1111/cge.13695. [Epub ahead of print]

A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients. Song D1, Fu X1, Ge L1, Chang X1, Wei C1, Liu J1, Yang H1, Qu S2, Bao X1, Toda T3, Wu X1, Xiong H1. 1Department of Pediatrics, Peking University First Hospital, Beijing, China. 2Department of Pediatrics, The Sixth Medical Center of PLA General Hospital, Beijing, China. 3Department of Neurology, University of Tokyo Graduate School of Medicine International Research Center for Medical Education, Tokyo, Japan. PMID: 31909476 DOI:10.1111/cge.13695

Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker –

Dystrophinopathies 16. Conf Proc IEEE Eng Med Biol Soc. 2019 Jul;2019:3845-3848. doi: 10.1109/EMBC.2019.8856892.

EMG-based Indicators of Muscular Co-Activation during Gait in Children with Duchenne Muscular Dystrophy. Rinaldi M, Petrarca M, Romano A, Vasco G, D'Anna C, Schmid M, Castelli E, Conforto S. PMID: 31946712 DOI:10.1109/EMBC.2019.8856892

17. Conf Proc IEEE Eng Med Biol Soc. 2019 Jul;2019:1662-1665. doi: 10.1109/EMBC.2019.8857264. Artificial Neural Network to Detect Human Hand Gestures for a Robotic Arm Control. Schabron B, Alashqar Z, Fuhrman N, Jibbe K, Desai J. PMID: 31946215 DOI:10.1109/EMBC.2019.8857264

18. Neurology. 2020 Jan 14. pii: 10.1212/WNL.0000000000008939. [Epub ahead of print] MRI vastus lateralis fat fraction predicts loss of ambulation in Duchenne muscular dystrophy. Naarding KJ1, Reyngoudt H2, van Zwet EW2, Hooijmans MT2, Tian C2, Rybalsky I2, Shellenbarger KC2, Le Louër J2, Wong BL2, Carlier PG2, Kan HE2, Niks EH2. 1From the Department of Neurology (K.J.N., E.H.N.), Department of Biostatistics (E.W.v.Z), and C.J. Gorter Center for High Field MRI (M.T.H., H.E.K.), Department of Radiology, Leiden University Medical Center, Zuid-Holland; Duchenne Center Netherlands (K.J.N., H.E.K., E.H.N.); AIM and CEA NMR Laboratory (H.R., J.L.L., P.G.C.), Neuromuscular Investigation Center, Institute of Myology, Paris, France; and Department of Neurology (C.T., I.R., K.C.S., B.L.W.), Cincinnati Children's Hospital Medical Center, OH. k.j.naarding@lumc.nl. 2From the Department of Neurology (K.J.N., E.H.N.), Department of Biostatistics (E.W.v.Z), and C.J. Gorter Center for High Field MRI (M.T.H., H.E.K.), Department of Radiology, Leiden University Medical Center, Zuid-Holland; Duchenne Center Netherlands (K.J.N., H.E.K., E.H.N.); AIM and CEA NMR Laboratory (H.R., J.L.L., P.G.C.), Neuromuscular Investigation Center, Institute of Myology, Paris, France; and Department of Neurology (C.T., I.R., K.C.S., B.L.W.), Cincinnati Children's Hospital Medical Center, OH. PMID: 31937624 DOI:10.1212/WNL.0000000000008939

19. J Neuromuscul Dis. 2020 Jan 7. doi: 10.3233/JND-190447. [Epub ahead of print] Characterizing Enrollment in Observational Studies of Duchenne Muscular Dystrophy by Race and Ethnicity. Barnard AM1, Riehl SL2, Willcocks RJ2, Walter GA1, Angell AM3, Vandenborne K2. 1Department of Physiology and Functional Genomics, University of Florida, Gainesville, FL, USA. 2Department of Physical Therapy, University of Florida, Gainesville, FL, USA. 3Department of Occupational Therapy, University of Florida, Gainesville, FL, USA. KEYWORDS: Bibliometrics; Healthcare Disparities; Minority Health; Muscular dystrophies; Observational Studies PMID: 31929119 DOI:10.3233/JND-190447

Bibliographie sur les maladies neuromusculaires

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20. Growth Horm IGF Res. 2019 Dec 31;51:6-16. doi: 10.1016/j.ghir.2019.12.006. [Epub ahead of print] Linkage between growth retardation and pituitary cell morphology in a dystrophin-deficient pig model of Duchenne muscular dystrophy. Hofmann I1, Kemter E2, Theobalt N1, Fiedler S1, Bidlingmaier M3, Hinrichs A2, Aichler M4, Burkhardt K2, Klymiuk N2, Wolf E5, Wanke R1, Blutke A6. 1Institute of Veterinary Pathology at the Centre for Clinical Veterinary Medicine, Ludwig-Maximilians-Universität München, Munich, Germany. 2Chair for Molecular Animal Breeding and Biotechnology, Gene Centre and Department of Veterinary Sciences, Ludwig-Maximilians-Universität München, Munich, Germany; Centre for Innovative Medical Models (CiMM), Ludwig-Maximilians-Universität München, Oberschleißheim, Germany. 3Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany. 4Research Unit Analytical Pathology, Helmholtz Zentrum München, Neuherberg, Germany. 5Chair for Molecular Animal Breeding and Biotechnology, Gene Centre and Department of Veterinary Sciences, Ludwig-Maximilians-Universität München, Munich, Germany; Centre for Innovative Medical Models (CiMM), Ludwig-Maximilians-Universität München, Oberschleißheim, Germany; Laboratory for Functional Genome Analysis (LAFUGA), Gene Centre, Ludwig-Maximilians-Universität München, Munich, Germany. 6Research Unit Analytical Pathology, Helmholtz Zentrum München, Neuherberg, Germany. Electronic address: andreas.parzefall@helmholtz-muenchen.de. KEYWORDS: Adenohypophysis; Disector; Growth hormone (GH); Quantitative stereology; Short stature PMID: 31926372 DOI:10.1016/j.ghir.2019.12.006

21. Biochim Biophys Acta Mol Basis Dis. 2020 Jan 8;1866(5):165674. [Epub ahead of print] Duchenne muscular dystrophy is associated with the inhibition of calcium uniport in mitochondria and an increased sensitivity of the organelles to the calcium-induced permeability transition. Dubinin MV1, Talanov EY2, Tenkov KS3, Starinets VS3, Mikheeva IB2, Sharapov MG4, Belosludtsev KN5. 1Mari State University, pl. Lenina 1, Yoshkar-Ola, Mari El 424001, Russia. Electronic address: dubinin1989@gmail.com. 2Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Institutskaya 3, Pushchino, Moscow Region 142290, Russia. 3Mari State University, pl. Lenina 1, Yoshkar-Ola, Mari El 424001, Russia. 4Institute of Cell Biophysics, Russian Academy of Sciences, PSCBR RAS, Institutskaya 3, Pushchino, Moscow Region 142290, Russia. 5Mari State University, pl. Lenina 1, Yoshkar-Ola, Mari El 424001, Russia; Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Institutskaya 3, Pushchino, Moscow Region 142290, Russia. KEYWORDS: Ca(2+) uniporter; Calcium; Duchenne muscular dystrophy; Mitochondria; Mitochondrial permeability transition; Skeletal muscle PMID: 31926263 DOI:10.1016/j.bbadis.2020.165674

22. PLoS One. 2020 Jan 10;15(1):e0226980. doi: 10.1371/journal.pone.0226980. eCollection 2020. Diagnostic differences in respiratory breathing patterns and work of breathing indices in children with Duchenne muscular dystrophy. Ryan L1, Rahman T1, Strang A2, Heinle R2, Shaffer TH1,3. 1Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America. 2Division of Pulmonary Medicine, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America. 3Center for Pediatric Lung Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America. PMID: 31923192 DOI:10.1371/journal.pone.0226980

23. J Comp Eff Res. 2020 Jan 10. doi: 10.2217/cer-2019-0170. [Epub ahead of print] Real-world outcomes of long-term prednisone and deflazacort use in patients with Duchenne muscular dystrophy: experience at a single, large care center. Marden JR1, Freimark J1, Yao Z1, Signorovitch J1, Tian C2, Wong BL3. 1Analysis Group, Inc., Boston, MA 02199, USA. 2Cincinnati Children's Hospital Medical Center & Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH 45229, USA. 3Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01655, USA. KEYWORDS: Duchenne muscular dystrophy; deflazacort; prednisone; real-world data PMID: 31922454 DOI:10.2217/cer-2019-0170

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24. Hum Genet. 2020 Jan 9. doi: 10.1007/s00439-019-02107-4. [Epub ahead of print] Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy. Okubo M1,2, Noguchi S3, Hayashi S1, Nakamura H4, Komaki H5, Matsuo M6, Nishino I1. 1Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan. 2Department of Pediatrics, Graduate School of Medicine and Faculty of Medicine, The University of Tokyo, Tokyo, Japan. 3Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan. noguchi@ncnp.go.jp. 4Department of Promoting Clinical Trial and Translational Medicine, Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan. 5Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan. 6KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, Hyogo, Japan. PMID: 31919629 DOI:10.1007/s00439-019-02107-4

25. Prenat Diagn. 2020 Jan 9. doi: 10.1002/pd.5641. [Epub ahead of print] Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy Based on the Direct Haplotype Phasing. Chen M1,2,3,4, Chen C5, Huang X6, Sun J5, Jiang L5, Li Y1, Zhu Y5, Tian C6, Li Y1,2,3,4, Lu Z5, Wang Y5, Zeng F6, Yang Y7, Song X6, Peng Z6, Yin C8, Chen D1,2,3,4,9. 1Department of Fetal Medicine and Prenatal Diagnosis, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. 2Obstetrics & Gynecology Institute of Guangzhou, Guangzhou, China. 3The Medical Centre for Critical Pregnant Women in Guangzhou, Guangzhou, China. 4Key Laboratory for Major Obstetric Diseases of Guangdong Province, Guangzhou, China. 5Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China. 6BGI Genomics, BGI-Shenzhen, Shenzhen, China. 7Wuhan BGI Clinical Laboratory Co., Ltd, BGI-Wuhan, BGI-Shenzhen, Wuhan, China. 8Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China. 9Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes. PMID: 31916613 DOI:10.1002/pd.5641

26. J Clin Invest. 2020 Jan 7. pii: 128190. doi: 10.1172/JCI128190. [Epub ahead of print] Prevention of Connexin43 remodeling protects against duchenne muscular dystrophy cardiomyopathy. Himelman E, Lillo MA, Nouet J, Gonzalez JP, Zhao Q, Xie LH, Li H, Liu T, Wehrens XH, Lampe PD, Fishman GI, Shirokova N, Contreras JE, Fraidenraich D. KEYWORDS: Cardiology; Cardiovascular disease; Cell Biology; Neuromuscular disease PMID: 31910160 DOI: 10.1172/JCI128190

27. Muscle Nerve. 2020 Jan 7. doi: 10.1002/mus.26803. [Epub ahead of print] Neurodevelopmental, behavioral, and emotional symptoms common in Duchenne muscular dystrophy. Darmahkasih AJ1, Rybalsky I2, Tian C3, Shellenbarger KC4, Horn PS3, Lambert JT2, Wong BL4. 1Pediatric Residency Program, University of California, Irvine/Children's Hospital of Orange County, Orange, California. 2Neurology Division, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 3Division of Neurology, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio. 4Department of Pediatrics, University of Massachusetts Medical School, Worchester, Massachusetts. KEYWORDS: Duchenne muscular dystrophy; behavioral disorders; cognitive impairment; emotional disorders; neurodevelopmental disorders PMID: 31909820 DOI:10.1002/mus.26803

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28. Mol Ther Methods Clin Dev. 2019 Nov 27;17:122-132. doi: 10.1016/j.omtm.2019.11.015. eCollection 2020 Jun 12. Micro-dystrophin Gene Therapy Partially Enhances Exercise Capacity in Older Adult mdx Mice. Rodgers BD1, Bishaw Y1, Kagel D1, Ramos JN2,3, Maricelli JW1. 1School of Molecular Biosciences, Washington Center for Muscle Biology, Washington State University, Pullman, WA 99164, USA. 2Department of Neurology, Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, University of Washington, Seattle, WA 98195, USA. 3Molecular and Cellular Biology Program, University of Washington School of Medicine, Seattle, WA, USA. KEYWORDS: Duchenne muscular dystrophy; exercise; gene therapy; mdx; microdystrophin PMID: 31909085 PMCID:PMC6939027 DOI:10.1016/j.omtm.2019.11.015

29. J Neuromuscul Dis. 2020 Jan 2. doi: 10.3233/JND-190435. [Epub ahead of print] Relationship between Eating and Digestive Symptoms and Respiratory Function in Advanced Duchenne Muscular Dystrophy Patients. Lee JW1,2, Oh HJ3, Choi WA3,4, Kim DJ5, Kang SW3,4,2. 1Department of Physical Medicine and Rehabilitation, National Health Insurance Service Ilsan Hospital, Goyang-si, Gyeonggi-do, Korea. 2Yonsei University Graduate School of Medicine, Seoul, Korea. 3Department of Rehabilitation Medicine and Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. 4Pulmonary Rehabilitation Center, Gangnam Severance Hospital. 5Department of Rehabilitation Medicine, SRC Rehabilitation Hospital, Gwangju-si, Gyeonggi-do, Korea. KEYWORDS: Duchenne muscular dystrophy; deglutition disorders; digestive symptoms; respiratory function PMID: 31903995 DOI:10.3233/JND-190435

Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies 30. Orphanet J Rare Dis. 2020 Jan 14;15(1):14. doi: 10.1186/s13023-020-1296-x.

Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect. Mojbafan M1,2, Bahmani R1,3, Bagheri SD4, Sharifi Z4,5, Zeinali S6,7. 1Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Shahid Hemmat Highway, Tehran, Iran. 2Department of Medical Genetics, Ali-Asghar Children's Hospital, Zafar St., Shahid Modarres Highway, Tehran, Iran. 3Student Research Committee, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran. 4Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran. 5Department of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran. 6Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran. zeinalipasteur@yahoo.com. 7Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, No. 69, Pasteur Ave, Tehran, Iran. zeinalipasteur@yahoo.com. KEYWORDS: Autozygosity mapping; Founder effect; Iran; Limb-girdle muscular dystrophy; Novel mutations PMID: 31937337 PMCID:PMC6961257 DOI:10.1186/s13023-020-1296-x

31. Biomed Rep. 2020 Feb;12(2):46-50. doi: 10.3892/br.2019.1260. Epub 2019 Nov 27. A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report. Tran KT1, Le VS1,2, Vu CD3, Nguyen LT1. 1Vinmec Research Institute of Stem Cell and Gene Technology, Vinmec International Hospital, Hanoi 100000, Vietnam. 2University of Engineering and Technology, Vietnam National University, Hanoi 100000, Vietnam. 3Vinmec Times City International Hospital, Vinmec International Hospital, Hanoi 100000, Vietnam. KEYWORDS: LAMA2 gene; de novo; merosin deficient congenital muscular dystrophy type 1A; whole exome sequencing PMID: 31929873 PMCID:PMC6951223 DOI:10.3892/br.2019.1260

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Dystroglycanopathies – Dystroglycanopathies 32. Nat Commun. 2020 Jan 16;11(1):303. doi: 10.1038/s41467-019-14220-z.

Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy. Kuwabara N1, Imae R2, Manya H2, Tanaka T3, Mizuno M3, Tsumoto H4, Kanagawa M5, Kobayashi K5, Toda T5,6, Senda T1,7, Endo T8, Kato R9,10. 1Structural Biology Research Center, Institute of Materials Structure Science, High Energy Accelerator Research Organization, Tsukuba, Ibaraki, 305-0801, Japan. 2Molecular Glycobiology, Research Team for Mechanism of Aging, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Itabashi-ku, Tokyo, 173-0015, Japan. 3Laboratory of Glyco-organic Chemistry, The Noguchi Institute, Itabashi-ku, Tokyo, 173-0003, Japan. 4Proteome Research, Research Team for Mechanism of Aging, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Itabashi-ku, Tokyo, 173-0015, Japan. 5Division of Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Hyogo, 650-0017, Japan. 6Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan. 7School of High Energy Accelerator Science, SOKENDAI, Tsukuba, Ibaraki, 305-0801, Japan. 8Molecular Glycobiology, Research Team for Mechanism of Aging, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Itabashi-ku, Tokyo, 173-0015, Japan. endo@tmig.or.jp. 9Structural Biology Research Center, Institute of Materials Structure Science, High Energy Accelerator Research Organization, Tsukuba, Ibaraki, 305-0801, Japan. ryuichi.kato@kek.jp. 10School of High Energy Accelerator Science, SOKENDAI, Tsukuba, Ibaraki, 305-0801, Japan. ryuichi.kato@kek.jp. PMID: 31949166 DOI:10.1038/s41467-019-14220-z

Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD)

33. Commun Biol. 2019 Jul 10;2(1):255. doi: 10.1038/s42003-019-0499-y. A ubiquitin-like domain is required for stabilizing the N-terminal ATPase module of human SMCHD1. Pedersen LC1, Inoue K2, Kim S2, Perera L1, Shaw ND3,4. 1Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA. 2Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA. 3Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA. Natalie.shaw@nih.gov. 4Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA, 02114, USA. Natalie.shaw@nih.gov. PMID: 31925095 DOI:10.1038/s42003-019-0499-y

Dystrophies myotoniques – Myotonic dystrophies 34. Cell Res. 2020 Jan 17. doi: 10.1038/s41422-020-0276-y. [Epub ahead of print]

New myotonic dystrophy type 1 mouse model. Lei Y1, Finnell RH2,3. 1Center for Precision Environmental Health, Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX, 77030, USA. 2Center for Precision Environmental Health, Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX, 77030, USA. Richard.Finnell@bcm.edu. 3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Richard.Finnell@bcm.edu. PMID: 31953529 DOI:10.1038/s41422-020-0276-y

35. Neurol Res. 2020 Jan 17:1-8. doi: 10.1080/01616412.2020.1716494. [Epub ahead of print] Lower limb muscle magnetic resonance imaging in Chinese patients with myotonic dystrophy type 1. Song J1, Fu J1, Ma M1, Pang M1, Li G1, Gao L2, Zhang J1. 1Department of Neurology, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Henan, China. 2Department of Radiology, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Henan, China. KEYWORDS: Lower limb muscle; chinese patients; magnetic resonance imaging; muscular Impairment Rating Scale; myotonic dystrophy type 1 PMID: 31951783 DOI:10.1080/01616412.2020.1716494

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36. Int J Mol Sci. 2020 Jan 10;21(2). pii: E457. doi: 10.3390/ijms21020457.

DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies. Tomé S1, Gourdon G1. 1Inserm UMR 974, Sorbonne Université, Association Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France. KEYWORDS: CTG repeat instability; clinic variability; myotonic dystrophy PMID: 31936870 DOI:10.3390/ijms21020457

37. ACS Chem Biol. 2020 Jan 13. doi: 10.1021/acschembio.9b00958. [Epub ahead of print] Structure-Specific Cleavage of an RNA Repeat Expansion with a Dimeric Small Molecule Is Advantageous over Sequence-Specific Recognition by an Oligonucleotide. Benhamou RI1, Angelbello AJ1, Andrews RJ2, Wang ET3, Moss WN2, Disney MD1. 1Department of Chemistry , The Scripps Research Institute , 110 Scripps Way , Jupiter , Florida 33458 , United States. 2Roy J. Carver Department of Biophysics, Biochemistry, and Molecular Biology , Iowa State University , Ames , Iowa 50011 , United States. 3Department of Molecular Genetics and Microbiology, Center for NeuroGenetics, UF Genetics Institute , University of Florida , 2033 Mowry Road , Gainesville , Florida 32610 , United States. PMID: 31927948 DOI:10.1021/acschembio.9b00958

38. Front Neurol. 2019 Dec 13;10:1320. doi: 10.3389/fneur.2019.01320. eCollection 2019. Characterization of Iron Accumulation in Deep Gray Matter in Myotonic Dystrophy Type 1 and 2 Using Quantitative Susceptibility Mapping and R2* Relaxometry: A Magnetic Resonance Imaging Study at 3 Tesla. Ates S1, Deistung A2,3, Schneider R1, Prehn C1, Lukas C4,5, Reichenbach JR3, Schneider-Gold C1, Bellenberg B4,5. 1Department of Neurology, St. Josef Hospital, Ruhr-University Bochum, Bochum, Germany. 2Department of Radiology, University Hospital Halle (Saale), Halle (Saale), Germany. 3Medical Physics Group, Institute of Diagnostic and Interventional Radiology, Jena University Hospital, Friedrich Schiller-University, Jena, Germany. 4Institute of Neuroradiology, St. Josef Hospital, Ruhr-University Bochum, Bochum, Germany. 5Department of Diagnostic and Interventional Radiology and Nuclear Medicine, St. Josef Hospital, Ruhr-University Bochum, Bochum, Germany. KEYWORDS: DM1; DM2; R2* relaxometry; deep gray matter; iron; myotonic dystrophy type 1; myotonic dystrophy type 2; quantitative susceptibility mapping PMID: 31920940 PMCID:PMC6923271 DOI:10.3389/fneur.2019.01320

39. Am J Case Rep. 2020 Jan 9;21:e919867. doi: 10.12659/AJCR.919867. Congenital Myotonic Dystrophy and Brugada Syndrome: A Report of Two Cases. Gupta K1, Kennelly MR2, Siddappa AM1. 1Division of Neonatology, Department of Pediatrics, Hennepin County Medical Center (HCMC), Minneapolis, MN, USA. 2Department of Maternal-Fetal Medicine, Hennepin County Medical Center (HCMC), Minneapolis, MN, USA. PMID: 31915326 DOI:10.12659/AJCR.919867

40. Neuromuscul Disord. 2019 Nov 20. pii: S0960-8966(19)31202-7. [Epub ahead of print] Fragility fractures and bone mineral density in male patients affected by type 1 and type 2 myotonic dystrophy. Passeri E1, Sansone VA2, Sconfienza LM3, Messina C3, Meola G4, Corbetta S5. 1Endocrinology and Diabetology Service, IRCCS Istituto Ortopedico Galeazzi, Via Riccardo Galeazzi 4, Milan 20161, Italy. 2Neurorehabilitation Unit, University of Milan, The NEMO (NEuroMuscular Omniservice) Clinical Center, Milan 20162, Italy; Department of Biomedical Sciences for Health, University of Milan, Milan 20133, Italy. 3Department of Biomedical Sciences for Health, University of Milan, Milan 20133, Italy; Diagnostic and Interventional Radiology Unit, IRCCS Istituto Ortopedico Galeazzi, Milan 20161, Italy. 4Department of Biomedical Sciences for Health, University of Milan, Milan 20133, Italy; Neurology Unit, IRCCS Policlinico San Donato, San Donato Milanese, Milan 20097, Italy. 5Endocrinology and Diabetology Service, IRCCS Istituto Ortopedico Galeazzi, Via Riccardo Galeazzi 4, Milan 20161, Italy; Department of Biomedical, Surgical and Odontoiatric Sciences, University of Milan, Milan 20122, Italy. Electronic address: sabrina.corbetta@unimi.it. KEYWORDS: Bone mineral density; Fractures; Myotonic dystrophy

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PMID: 31902642 DOI:10.1016/j.nmd.2019.11.006

Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva 41. Bone. 2020 Jan 3:115222. doi: 10.1016/j.bone.2020.115222. [Epub ahead of print]

History of etidronate. Watts NB1, Chesnut CH 3rd2, Genant HK3, Harris ST4, Jackson RD5, Licata AA6, Miller PD7, Mysiw WJ8, Richmond B9, Valent D10. 1Mercy Health Osteoporosis and Bone Health Services, 4760 E. Galbraith Rd, Suite 212, Cincinnati, OH 45236, USA. Electronic address: nelson.watts@hotmail.com. 2Departments of Radiology and Medicine, University of Washington Medical Center, Seattle, Washington USA 98195; Department of Medicine, University of Washington Medical Center, Seattle, WA 98195, USA. Electronic address: chesnut@uw.edu. 3Departments of Radiology, Medicine and Orthopedic Surgery, University of California, San Francisco, 505 Parnassus Avenue, San Francisco, CA 94143, USA; Department of Medicine, University of California, San Francisco, 505 Parnassus Avenue, San Francisco, CA 94143, USA; Department of Orthopedic Surgery, University of California, San Francisco, 505 Parnassus Avenue, San Francisco, CA 94143, USA. Electronic address: Harry.Genant@ucsf.edu. 4Department of Medicine, University of California, San Francisco, 1635 Divisadero St., Suite 525, San Francisco, CA 94115-3044, USA. Electronic address: steve.harris@ucsf.edu. 5Department of Internal Medicine, Division of Endocrinology, Diabetes and Metabolism, The Ohio State University, 376 West Tenth Ave, Suite 260 Prior Hall, Columbus, OH 43210, USA. Electronic address: jackson.20@osu.edu. 6Department of Endocrinology, Cleveland Clinic, 9500 Euclid Ave., Cleveland, OH 44195, USA. Electronic address: licataa@ccf.org. 7Colorado Center for Bone Research, USA. 8Department of Physical Medicine and Rehabilitation, 480 Medical Center Drive, 1018 Dodd Hall, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA. Electronic address: Mysiw.1@osu.edu. 9Department of Radiology, Cleveland Clinic, 9500 Euclid Ave., Cleveland, OH 44194, USA. Electronic address: richmob@ccf.org. 10Procter & Gamble Pharmaceuticals, 8700 Mason Montgomery Road, Mason, OH 45040, USA. Electronic address: dvalent@zoomtown.com. KEYWORDS: Bisphosphonates; Etidronate; Fracture; Osteoporosis; Paget's disease PMID: 31911206 DOI:10.1016/j.bone.2020.115222

Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease 42. J Int Neuropsychol Soc. 2020 Jan 17:1-9. doi: 10.1017/S1355617719001188. [Epub ahead of print]

Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease. Kasselimis D1,2, Karadima G3, Angelopoulou G1, Breza M3, Tsolakopoulos D1, Potagas C1, Panas M3, Koutsis G3. 1Neuropsychology and Language Disorders Unit, 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, 11528 AthensGreece. 2Division of Psychiatry and Behavioral Sciences, School of Medicine, University of Crete, Greece. 3Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Greece. KEYWORDS: CNS involvement; Cognitive flexibility; Cognitive impairment; Connexin-32; Decoding; Executive functions; GJB1; Reading fluency PMID: 31948496 DOI:10.1017/S1355617719001188

43. J Neurol Sci. 2019 Dec 9;410:116623. doi: 10.1016/j.jns.2019.116623. [Epub ahead of print] Charcot-Marie-Tooth disease with a mutation in FBLN5 accompanying with the small vasculitis and widespread onion-bulb formations. Yamagishi Y1, Samukawa M2, Kuwahara M2, Takada K2, Saigoh K3, Mitsui Y2, Oka N4, Hashiguchi A5, Takashima H5, Kusunoki S2. 1Department of Neurology, Kindai University, Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-sayama, Osaka 589-8511, Japan. Electronic address: y-yamagishi@med.kindai.ac.jp. 2Department of Neurology, Kindai University, Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-sayama, Osaka 589-8511, Japan. 3Department of Neurology, Kindai University, Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-sayama, Osaka 589-8511, Japan; Department of Life Science, Kindai University, Faculty of Science and Engineering, 3-4-1 Kowakae, Higashiosaka, Osaka 577-8502, Japan. 4Department of Neurology, National Hospital Organization Minami-Kyoto Hospital, 11 Nakaashihara, Joyo, Kyoto 610-0113, Japan. 5Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1, Sakuragaoka, Kagoshima 890-8544, Japan.

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KEYWORDS: Charcot-Marie-Tooth disease; FBLN5; Immunotherapy; Nerve biopsy; Vasculitis PMID: 31945625 DOI:10.1016/j.jns.2019.116623

44. Mol Genet Genomic Med. 2020 Jan 14:e1127. doi: 10.1002/mgg3.1127. [Epub ahead of print] A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree. Liu Y1, Xue J1,2, Li Z1, Linpeng S1, Tan H1, Teng Y3, Liang D1, Wu L1. 1Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China. 2Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, China. 3Hunan Jiahui Genetics Hospital, Changsha, China. KEYWORDS: GJB1 ; Charcot-Marie-Tooth disease; novel mutation; phenotypic heterogeneity PMID: 31943912 DOI:10.1002/mgg3.1127

45. Foot Ankle Int. 2020 Jan 15:1071100719901119. doi: 10.1177/1071100719901119. [Epub ahead of print] Extensor Tendon Transfers for Treatment of Foot Drop in Charcot-Marie-Tooth Disease: A Biomechanical Evaluation. Pfeffer GB1, Michalski M1, Nelson T1, An TW1, Metzger M1. 1Cedars-Sinai Medical Center, Los Angeles, CA, USA. KEYWORDS: Charcot-Marie-Tooth; Hibbs transfer; claw toes; extensor tendon transfer; foot drop PMID: 31941350 DOI:10.1177/1071100719901119

46. Turk J Pediatr. 2019;61(3):428-430. doi: 10.24953/turkjped.2019.03.017. Charcot-Marie-Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition. Gogou M1, Pavlidou E1, Pavlou E1, Papageorgiou T1, Tragiannidis A1, Giannopoulos A1, Hatzipantelis E1. 1Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, University General Hospital AHEPA, Thessaloniki, Greece. KEYWORDS: Charcot-Marie-Tooth; ependymoma; neurooncology; neurotoxicity; vincristine PMID: 31916723 DOI:10.24953/turkjped.2019.03.017

Maladie de Brody – Brody disease 47. Muscle Nerve. 2020 Jan 16. doi: 10.1002/mus.26809. [Epub ahead of print]

Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation. Masingue M1, Arzel M2, Sternberg D3,4, Stojkovic T1, Behin A1, Bassez G1, Vicart S3, Péréon Y5, Magot A5, Kuntzer T6, Eymard B1, Fournier E2,7. 1Reference Center for Neuromuscular Diseases Nord-Est-Ile de France, Institute of Myology, CHU Pitié Salpetrière, Assistance Publique Hôpitaux de Paris, Paris, France. 2Department of Neurophysiology, CHU Pitié Salpetrière, Assistance Publique Hôpitaux de Paris, Paris, France. 3National Reference Center for Muscle Channelopathies, Groupe Hospitalier Pitié Salpetrière, Assistance Publique Hôpitaux de Paris, Paris, France. 4Biochemistry Department, Center of Molecular and Cellular Genetics, Groupe Hospitalier Pitié Salpetrière, Assistance Publique Hôpitaux de Paris, Paris, France. 5Reference Center for Neuromuscular Diseases Atlantique-Occitanie-Caraïbes, CHU Nantes, Nantes, France. 6Department of Neurology, Lausanne University Hospital CHUV, Lausanne, Switzerland. 7Department of Physiology, Sorbonne University, Faculté de médecine Pitié-Salpêtrière, Paris, France. KEYWORDS: ATP2A1; Brody Myopathy; Electric functional analyses; Electroneuromyography; Incremental response; Repetitive Nerve Stimulation PMID: 31944327 DOI:10.1002/mus.26809

Myasthénie autoimmune – Myasthenia gravis 48. Eur J Clin Pharmacol. 2020 Jan 18. doi: 10.1007/s00228-019-02803-0. [Epub ahead of print]

Multiple genetic factors affecting the pharmacokinetic and pharmacodynamic processes of tacrolimus in Chinese myasthenia gravis patients. Meng HY1, Li X2,3, Jin WL1, Yan CK1, Dong XH1, Xu Q1, Peng YY1, Li ZB1, Li Y1, Luo ZH1, Xu LQ1, Yang H4. 1Department of Neurology, Xiangya Hospital of Central South University, Changsha, China.

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2Department of Clinical Pharmacology, Xiangya Hospital of Central South University, Changsha, China. 3Institute of Clinical Pharmacology, Hunan Key Laboratory of Pharmacogenetics, Central South University, Changsha, China. 4Department of Neurology, Xiangya Hospital of Central South University, Changsha, China. yangh69@126.com. KEYWORDS: MiRNA; Myasthenia gravis; SNP; Tacrolimus PMID: 31955224 DOI:10.1007/s00228-019-02803-0

49. Thorac Cancer. 2020 Jan 15. doi: 10.1111/1759-7714.13294. [Epub ahead of print] Amyloid deposition in thymic extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue in a patient with myasthenia gravis: A case report. You S1, Sun JS1, Park KJ1, Koh YW2. 1Department of Radiology, Ajou University School of Medicine and Graduate School of Medicine, Suwon, Republic of Korea. 2Department of Pathology, Ajou University School of Medicine and Graduate School of Medicine, Suwon, Republic of Korea. KEYWORDS: B-cell; lymphoma; marginal zone; myasthenia gravis; thymus neoplasm PMID: 31943837 DOI:10.1111/1759-7714.13294

50. Orphanet J Rare Dis. 2020 Jan 14;15(1):13. doi: 10.1186/s13023-019-1289-9. Out-of-pocket expenses for myasthenia gravis patients in China: a study on patients insured by basic medical insurance in China, 2013-2015. Lin TY1,2, Zhang XY3, Fang PQ4,5, Min R6. 1School of Medicine and Health Management, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. 2The First Affiliated Hospital, School of Medicine, Shihezi University, Xinjiang, 832008, China. 3College of Politics & Law and Public Administration, Hubei University, Wuhan, 430062, China. 4School of Medicine and Health Management, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. pfang@mails.tjmu.edu.cn. 5Academy of Health Policy and Management, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. pfang@mails.tjmu.edu.cn. 6School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. taoyulin1209@163.com. KEYWORDS: Basic medical insurance; Myasthenia gravis; Out-of-pocket expenses; Reimbursement PMID: 31937334 PMCID:PMC6961354 DOI:10.1186/s13023-019-1289-9

51. Int J Cardiol. 2020 Feb 1;300:48. doi: 10.1016/j.ijcard.2019.11.084. Myasthenic crises triggering Takotsubo cardiomyopathy. Scorza FA1, Fiorini AC2, Scorza CA3, Finsterer J4. 1Disciplina de Neurociência, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM/UNIFESP), São Paulo, Brazil. Electronic address: scorza@unifesp.br. 2Programa de Estudos Pós-Graduado em Fonoaudiologia, Pontifícia Universidade Católica de São Paulo (PUC-SP), Departamento de Fonoaudiologia, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM/UNIFESP), São Paulo, Brazil. Electronic address: acfiorini@pucsp.br. 3Disciplina de Neurociência, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM/UNIFESP), São Paulo, Brazil. 4Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria. Electronic address: fifigs1@yahoo.de. Related article: Desai R et al. Burden and impact of takotsubo syndrome in myasthenic crisis: A national inpatient perspective on the under-recognized but potentially fatal association. Int J Cardiol. 2020 Jan 15;299:63-66. Available in Myobase: http://www.myobase.org/index.php?lvl=notice_display&id=68820 KEYWORDS: Aetylcholine; Broken heart; Crisis; Myasthenia; Stress PMID: 31928654 DOI:10.1016/j.ijcard.2019.11.084

52. Int J Cardiol. 2020 Feb 1;300:47. doi: 10.1016/j.ijcard.2019.11.112. Reply to: Myasthenic crises triggering Takotsubo cardiomyopathy. Desai R1, Sachdeva R2, Kumar G3. 1Division of Cardiology, Atlanta VA Medical Center, Decatur, GA, USA. Electronic address: rdesa30@emory.edu.

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2Division of Cardiology, Atlanta VA Medical Center, Decatur, GA, USA; Division of Cardiology, Emory University School of Medicine, Decatur, GA, USA; Division of Cardiology, Morehouse School of Medicine, Atlanta, GA, USA; Division of Cardiology, Medical College of Georgia, Augusta, GA, USA. 3Division of Cardiology, Atlanta VA Medical Center, Decatur, GA, USA; Division of Cardiology, Emory University School of Medicine, Decatur, GA, USA. KEYWORDS: Broken heart; Myasthenia gravis; Myasthenic crisis; Stress-induced cardiomyopathy; Takotsubo cardiomyopathy; Takotsubo syndrome PMID: 31928653 DOI:10.1016/j.ijcard.2019.11.112

53. J Clin Neurosci. 2020 Jan 8. pii: S0967-5868(19)31972-1. doi: 10.1016/j.jocn.2019.12.055. [Epub ahead of print] Late-onset myasthenia gravis successfully treated with local resection of cervical ectopic thymoma. Sekiguchi T1, Yoshida K2, Minamihara Y3, Hayashi H4, Oka T5, Orimo S6. 1Department of Neurology, Kanto Central Hospital, 6-25-1 Kami-Yoga, Setagaya-ku, Tokyo, Japan; Department of Neurology, Yokohama City Minato Red Cross Hospital, 3-12-1 Shin-Yamashita, Naka-ku, Yokohama, Japan. Electronic address: t-sekiguchi.nuro@tmd.ac.jp. 2Department of Neurology, Kanto Central Hospital, 6-25-1 Kami-Yoga, Setagaya-ku, Tokyo, Japan. Electronic address: yoshidaken1988@yahoo.co.jp. 3Department of Neurology, Kanto Central Hospital, 6-25-1 Kami-Yoga, Setagaya-ku, Tokyo, Japan. Electronic address: yukinaminamihara@gmail.com. 4Department of Thoracic Surgery, Kanto Central Hospital, 6-25-1 Kami-Yoga, Setagaya-ku, Tokyo, Japan. Electronic address: hiroki48@h02.itscom.net. 5Department of Pathology, Kanto Central Hospital, 6-25-1 Kami-Yoga, Setagaya-ku, Tokyo, Japan; Departmant of Pathology, Fukujuji Hospital of Japan Anti-Tuberculosis Association, 3-1-24 Matsuyama, Kiyose, Tokyo, Japan. Electronic address: toka123@mbd.ocn.ne.jp. 6Department of Neurology, Kanto Central Hospital, 6-25-1 Kami-Yoga, Setagaya-ku, Tokyo, Japan. Electronic address: orimo@kanto-ctr-hsp.com. KEYWORDS: Acetylcholine receptor antibody; Elderly; Generalized myasthenia gravis; Guideline; Local resection; Thymectomy PMID: 31926660 DOI:10.1016/j.jocn.2019.12.055

54. Front Neurol. 2019 Dec 19;10:1343. doi: 10.3389/fneur.2019.01343. eCollection 2019. The Muscle Is Not a Passive Target in Myasthenia Gravis. Vilquin JT1, Bayer AC1, Le Panse R1, Berrih-Aknin S1. 1Sorbonne Université, INSERM, Association Institut de Myologie (AIM), Paris, France. KEYWORDS: acetylcholine receptor; autoimmunity; cytokines; muscle; myasthenia; neuromuscular junction; transcriptome PMID: 31920954 PMCID:PMC6930907 DOI:10.3389/fneur.2019.01343

55. Evid Based Complement Alternat Med. 2019 Dec 13;2019:9147072. eCollection 2019. iTRAQ-Based Proteomics Analysis of Plasma of Myasthenia Gravis Patients Treated with Jia Wei Bu Zhong Yi Qi Decoction. Zhang Y1, Yang J2, Chen Y3, Lv J4, Zhang J4, Zhang Y4, Zhao X4, Fang H4, Liu C5, Zhang Q6, Cui X6, Wang X7, Gao F4. 1School of Rehabilitation Medicine, Henan University of Chinese Medicine, No. 156 Jinshui East Road, Zhengzhou City, Henan Province 450008, China. 2Department of Neurology, The First Affiliated Hospital of Henan University of Chinese Medicine, No. 19, Renmin Road, Zhengzhou City, Henan Province 450000, China. 3Department of Neurology, Pingdingshan Traditional Chinese Medicine Hospital, Henan No. 4 Courtyard, North Section of Zhongxing Road, Pingdingshan City 467000, China. 4Department of Neuroimmunology Research, Henan Institute of Medical and Pharmaceutical Sciences, Zhengzhou University, Henan, No. 40, University Road, Zhengzhou City, Henan Province 450052, China. 5Beijing University of Chinese Medicine, No. 11, North Third Ring Road, Chaoyang District, Beijing 100029, China. 6Myasthenia Gravis Comprehensive Diagnosis and Treatment Center, Henan Provincial People's Hospital, No. 7, Weiwu Road, Zhengzhou City, Henan Province 450003, China. 7Henan University of Chinese Medicine, No. 156 Jinshui East Road, Zhengzhou City, Henan Province 450008, China. PMID: 31915455 PMCID: PMC6930785 DOI:10.1155/2019/9147072

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56. Neurol Sci. 2020 Jan 7. doi: 10.1007/s10072-019-04213-7. [Epub ahead of print] The associations of HLA-DRB1 gene polymorphisms with late-onset myasthenia gravis: a meta-analysis. Ling CS1,2, Shen ML1, Wang Y3, Cai WK4, Lin XQ5, Huang Q1, He GH6. 1Department of Pharmacy, 920th Hospital of Joint Logistics Support Force, 212 Daguan Rd, Kunming, 650032, China. 2Kunming Medical University, Kunming, 650032, China. 3Department of Orthopaedics, 920th Hospital of Joint Logistics Support Force, Kunming, 650032, China. 4Department of Cardio-Thoracic Surgery, 920th Hospital of Joint Logistics Support Force, Kunming, 650032, China. 5Department of Phase I Clinical Trial, Mengchao Hepatobiliary Hospital of Fujian Medical University, Fuzhou, Fujian, People's Republic of China. 6Department of Pharmacy, 920th Hospital of Joint Logistics Support Force, 212 Daguan Rd, Kunming, 650032, China. gonghow@hotmail.com. KEYWORDS: HLA-DRB1; Late-onset myasthenia gravis (LOMG); Polymorphisms; meta-analysis PMID: 31912337 DOI:10.1007/s10072-019-04213-7

57. J Neurol. 2020 Jan 7. doi: 10.1007/s00415-019-09686-2. [Epub ahead of print] Systematic review of the clinical spectrum of CASPR2 antibody syndrome. Boyko M1, Au KLK1, Casault C1, de Robles P1, Pfeffer G2,3,4. 1Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, HMRB 155, 3330 Hospital Dr NW, Calgary, AB, T2N 4N1, Canada. 2Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, HMRB 155, 3330 Hospital Dr NW, Calgary, AB, T2N 4N1, Canada. gerald.pfeffer@ucalgary.ca. 3Hotchkiss Brain Institute, University of Calgary, Calgary, Canada. gerald.pfeffer@ucalgary.ca. 4Alberta Child Health Research Institute, University of Calgary, Calgary, Canada. gerald.pfeffer@ucalgary.ca. PMID: 31912210 DOI:10.1007/s00415-019-09686-2

58. Seizure. 2019 Dec 23;75:89-95. doi: 10.1016/j.seizure.2019.12.015. [Epub ahead of print] Epilepsy and autoimmune diseases: Comorbidity in a national patient cohort. Wie Børsheim A1, Engeland A2, Gilhus NE3. 1Department of Neurology, Haukeland University Hospital, Bergen, Norway. Electronic address: anna.wie.borsheim@helse-bergen.no. 2Department of Chronic Diseases and Ageing, Division of Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway; Department of Global Public Health and Primary Care, University of Bergen, Norway. 3Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Bergen, Norway. KEYWORDS: Autoimmunity; Comorbidity; Diabetes; Epilepsy; Hypothyroidism; Multiple sclerosis; Myasthenia gravis PMID: 31918165 DOI:10.1016/j.seizure.2019.12.015

59. Clin Imaging. 2019 Dec 6;60(2):153-159. doi: 10.1016/j.clinimag.2019.10.017. [Epub ahead of print] Ectopic thymoma: Retrospective analysis of eight cases with clinical features and computed tomography findings. Zhou Q1, Han L1, Ke X1, Zhou J2. 1Department of Radiology, Lanzhou University Second Hospital, Gansu, China; Second Clinical School, Lanzhou University, China; Key Laboratory of Medical Imaging of Gansu Province, China. 2Department of Radiology, Lanzhou University Second Hospital, Gansu, China; Key Laboratory of Medical Imaging of Gansu Province, China. Electronic address: lzuzjl601@163.com. KEYWORDS: CT manifestation; Clinical; Ectopic thymoma PMID: 31927170 DOI:10.1016/j.clinimag.2019.10.017

Myopathies congénitales – Congenital myopathies 60. RNA. 2020 Jan 17. pii: rna.073692.119. doi: 10.1261/rna.073692.119. [Epub ahead of print]

Ppp1r1b-LncRNA Inhibits PRC2 at Myogenic Regulatory Genes to Promote Cardiac and Skeletal Muscle Development in Mouse and Human. Kang X1, Zhao Y1, Van Arsdell G1, Nelson SF1, Touma M2. 1UCLA. 2DAVID GEFFEN SCHOOL OF MEDICINE. UCLA mtouma@mednet.ucla.edu.

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KEYWORDS: Congenital Heart Defects; Congenital Myopathy; LncRNA; Myogenesis PMID: 31953255 DOI:10.1261/rna.073692.119

61. Neurology. 2020 Jan 15. pii: 10.1212/WNL.0000000000008872. [Epub ahead of print] Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies. Todd JJ1, Lawal TA1, Witherspoon JW1, Chrismer IC1, Razaqyar MS1, Punjabi M1, Elliott JS1, Tounkara F1, Kuo A1, Shelton MO1, Allen C1, Cosgrove MM1, Linton M1, Michael D1, Jain MS1, Waite M1, Drinkard B1, Wakim PG1, Dowling JJ1, Bönnemann CG1, Emile-Backer M1, Meilleur KG2. 1From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada. 2From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada. meilleurk@mail.nih.gov. PMID: 31941795 DOI:10.1212/WNL.0000000000008872

62. Clin Pract. 2019 Dec 19;9(4):1209. doi: 10.4081/cp.2019.1209. eCollection 2019 Nov 5. Respiratory treatment in a patient with nemaline myopathy. Polastri M1, Schifino G2, Tonveronachi E3, Tavalazzi F3. 1Department of Continuity of Care and Disability, Physical Medicine and Rehabilitation, St Orsola University Hospital. 2Department of Clinical, Integrated and Experimental Medicine (DIMES), Alma Mater Studiorum University of Bologna. 3Department of Cardiac-Thoracic-Vascular Diseases, Unit of Pneumonology, St Orsola University Hospital, Bologna, Italy. KEYWORDS: Nemaline myopathy; noninvasive ventilation; physiotherapy techniques; respiratory therapy; scoliosis PMID: 31929869 PMCID:PMC6945071 DOI:10.4081/cp.2019.1209

63. Pediatr Neurol. 2019 Nov 29. pii: S0887-8994(19)30925-7. [Epub ahead of print] Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now? Adaikina A1, Hofman PL2, O'Grady GL3, Gusso S4. 1Liggins Institute, University of Auckland, Auckland, New Zealand. Electronic address: a.adaikina@auckland.ac.nz. 2Liggins Institute, University of Auckland, Auckland, New Zealand. 3Paediatric Neurology Department, Starship Children's Hospital, Auckland, New Zealand. 4Department of Exercise Sciences, University of Auckland, Auckland, New Zealand. KEYWORDS: Aerobic exercises; Congenital myopathy; Neuromuscular disorders; Strength training; Vibration therapy PMID: 31926608 DOI:10.1016/j.pediatrneurol.2019.10.008

64. Front Neurol. 2019 Dec 10;10:1234. doi: 10.3389/fneur.2019.01234. eCollection 2019. Use of Fatigue Index as a Measure of Local Muscle Fatigability in Ryanodine Receptor Isoform-1-Related Myopathies. Witherspoon JW1, Rekant JS2, Wakim PG3, Vasavada R2, Waite M2, Chrismer I1, Shelton MO1, Jain MS1, Meilleur KG1. 1Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, United States. 2Rehabilitation Medicine Department, Mark O. Hatfield Clinical Research Center, National Institutes of Health, Bethesda, MD, United States. 3National Institutes of Health Clinical Center, Biostatistics and Clinical Epidemiology Service, Bethesda, MD, United States. KEYWORDS: RYR1-RM; fatigability; fatigue index; muscle; neuromuscular PMID: 31920904 PMCID:PMC6914942 DOI:10.3389/fneur.2019.01234

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65. J Pediatr Neurosci. 2019 Oct-Dec;14(4):222-224. doi: 10.4103/jpn.JPN_60_19. Epub 2019 Dec 3. KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate. Avasthi KK1, Agarwal S1, Panigrahi I2. 1Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, Uttar Pradesh, India. 2Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre (APC), Post Graduate Institute of Medical Education & Research (PGIMER), Chandigarh 160012, India. KEYWORDS: Clinical exome sequencing; KLHL40; congenital myopathy; nemaline myopathy PMID: 31908664 PMCID:PMC6935987 DOI: 10.4103/jpn.JPN_60_19

66. J Clin Invest. 2020 Jan 6. pii: 132954. doi: 10.1172/JCI132954. [Epub ahead of print] KBTBD13 and the ever-expanding sarcomeric universe. Campbell SG1, Niederer SA2. 1Departments of Biomedical Engineering and Cellular and Molecular Physiology, Yale University, New Haven, USA. 2Department of Biomedical Engineering, Kings' College London, London, United Kingdom. Related article available in Myobase : http://www.myobase.org/index.php?lvl=notice_display&id=68932 PMID: 31904591 DOI:10.1172/JCI132954

67. J Neuromuscul Dis. 2020 Jan 2. doi: 10.3233/JND-190430. [Epub ahead of print] Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia. Schiemann AH1, Roesl C1,2, Pollock N3,4, Langton E5, Bulger T3, Stowell KM1. 1School of Fundamental Sciences, Massey University, Manawatu, New Zealand. 2Present address: LifeArc, Nine, Edinburgh BioQuarter, Edinburgh, United Kingdom. 3Department of Anaesthesia and Intensive Care, Palmerston North Hospital, Manawatu, New Zealand. 4Now retired. 5Wellington Regional Hospital, Wellington, New Zealand. KEYWORDS: Malignant hyperthermia; anaesthesia; calcium homeostasis; myopathy; ryanodine receptor PMID: 31903994 DOI:10.3233/JND-190430

68. Neuromuscul Disord. 2019 Dec 25. pii: S0960-8966(19)31233-7. [Epub ahead of print] Cylindrical spirals in two families: Clinical and genetic investigations. Beecroft SJ1, Olive M2, Quereda LG2, Gallano MP2, Ojanguren I3, McLean C4, McCombe P5, Laing NG1, Ravenscroft G6. 1Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Australia. 2Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona 08907, Spain. 3Department of Pathology, Hospital Germans Trias i Pujol, Badalona 08916, Spain. 4Victorian Neuromuscular Laboratory, Alfred Health, Commercial Rd, Prahran, VIC 3181, Australia. 5The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Brisbane, Australia. 6Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Australia. Electronic address: gina.ravenscroft@perkins.uwa.edu.au. KEYWORDS: Cylindrical spiral myopathy; EBF3; Next-generation sequencing; TTN; Tubular aggregates PMID: 31952901 DOI:10.1016/j.nmd.2019.12.006

Myopathies inflammatoires – Inflammatory myopathies 69. Muscle Nerve. 2020 Jan 17. doi: 10.1002/mus.26813. [Epub ahead of print]

A Quantitative muscle MRI Study of Patients with Sporadic Inclusion Body Myositis. Behnaz A1,2,3, Emmanuelle SC1,4,5, Augustin O2, Arnaud LT2, Benjamin SM1, Maxime G2, Emilien D1,5, Aude-Marie G1,5, Annie V1,5, David B2, Shahram A1,4,5. 1Centre de référence PACA Réunion Rhône Alpes, La Timone University Hospital, Aix-Marseille University, Marseille. 2Aix-Marseille University, Centre de Résonance Magnétique Biologique et Médicale, UMR CNRS 7339, Marseille, France.

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3Isfahan Neurosciences Research Center, Alzahra Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran. 4Aix Marseille University, INSERM, GMGF, Marseille, France. 5FILNEMUS. KEYWORDS: Fat infiltration; IBM; MRI; Quantitative PMID: 31953869 DOI:10.1002/mus.26813

70. Ann Dermatol Venereol. 2020 Jan 14. pii: S0151-9638(19)31056-7. [Epub ahead of print] [Dermatomyositis featuring in a painting by Greta Hällförs-Sipilä (1899-1974)?] [Article in French] Kluger N1. 1Department of dermatology, allergology and venereology, Helsinki University Central Hospital, Meilahdentie 2, 00029 Helsinki, Finlande; Société française des sciences humaines sur la peau (SFSHP), maison de la dermatologie, 10, cité Malherbes, 75009 Paris, France. Electronic address: nicolaskluger@yahoo.fr. PMID: 31952955 DOI:10.1016/j.annder.2019.11.010

71. BMC Neurol. 2020 Jan 17;20(1):29. doi: 10.1186/s12883-020-1599-5. Secondary cardiac involvement in anti-SRP-antibody-positive myopathy: an 87-year-old woman with heart failure symptoms as the first clinical presentation. Hara A1, Amano R2, Yokote H1, Ijima M1, Zeniya S1, Uchihara T1, Yada S3, Masumura M3, Takei H3, Nishino I4, Toru S1. 1Department of Neurology, Nitobe Memorial Nakano General Hospital, 4-59-16 Chuo Nakano, Tokyo, 164-8607, Japan. 2Department of Neurology, Nitobe Memorial Nakano General Hospital, 4-59-16 Chuo Nakano, Tokyo, 164-8607, Japan. d10sm003@yahoo.co.jp. 3Department of Internal Medicine, Nitobe Memorial Nakano General Hospital, 4-59-16 Chuo Nakano, Tokyo, 164-8607, Japan. 4Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, 187-8502, Japan. KEYWORDS: Anti-signal recognition particle antibody; Colon carcinoma; Myocarditis; Necrotizing myopathy; Non-sustained ventricular tachycardia PMID: 31952503 DOI:10.1186/s12883-020-1599-5

72. Ther Adv Musculoskelet Dis. 2020 Jan 8;12:1759720X19886494. eCollection 2020. New insights into the treatment of myositis. Glaubitz S1, Zeng R1, Schmidt J2. 1Department of Neurology, Muscle Immunobiology Group, Neuromuscular Center, University Medical Center Göttingen, Göttingen, Germany. 2Department of Neurology, Muscle Immunobiology Group, Neuromuscular Center, University Medical Center Göttingen, Robert-Koch-Sr. 40, 37075 Göttingen, Germany. KEYWORDS: antisynthetase syndrome; dermatomyositis; inclusion body myositis; myositis; necrotizing myopathy; overlap syndrome; polymyositis PMID: 31949477 PMCID: PMC6950531 DOI:10.1177/1759720X19886494

73. JCI Insight. 2020 Jan 16. pii: 134189. doi: 10.1172/jci.insight.134189. [Epub ahead of print] Neutrophil dysregulation is pathogenic in idiopathic inflammatory myopathies. Seto NL, Torres-Ruiz JJ, Carmona-Rivera C, Pinal-Fernandez I, Pak K, Purmalek MM, Hosono Y, Fernandes-Cerqueira C, Gowda PC, Arnett N, Gorbach A, Benveniste O, Gómez-Martín D, Selva-O'Callaghan A, Milisenda JC, Grau-Junyent JM, Christopher-Stine L, Miller FW, Lundberg IE, Kahlenberg JM, Schiffenbauer AI, Mammen AL, Rider LG, Kaplan MJ. KEYWORDS: Autoimmunity; Innate immunity; Muscle Biology; Neutrophils PMID: 31945019 DOI:10.1172/jci.insight.134189

74. J Clin Neurol. 2020 Jan;16(1):160-162. doi: 10.3988/jcn.2020.16.1.160. Refractory Digital Ulcers Treated by Botulinum Toxin and Endothelin Receptor-1 Antagonist in Anti-MDA5-Antibody-Positive Dermatomyositis. Min HK1, Kim HR2, Lee SH2, Park SH3, Oh J4, Choi K5.

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1Division of Rheumatology, Department of Internal Medicine, Konkuk University Medical Center, Seoul, Korea. 2Division of Rheumatology, Department of Internal Medicine, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea. 3Department of Pathology, Seoul National University Hospital, Seoul University College of Medicine, Seoul, Korea. 4Department of Neurology, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea. 5Department of Neurology, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea. kyominchoi@naver.com. PMID: 31942775 DOI:10.3988/jcn.2020.16.1.160

75. Clin Rheumatol. 2020 Jan 15. doi: 10.1007/s10067-019-04918-2. [Epub ahead of print] Noninvasive positive pressure ventilator deteriorates the outcome of pneumomediastinum in anti-MDA5 antibody-positive clinically amyopathic dermatomyositis. Zhou M1, Ye Y1, Yan N1, Lian X1, Bao C2, Guo Q3. 1Department of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200001, China. 2Department of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200001, China. baochunde_1678@126.com. 3Department of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200001, China. bluedescent@126.com. KEYWORDS: Clinically amyopathic dermatomyositis; MDA5; Pneumomediastinum; Prognosis PMID: 31942657 DOI:10.1007/s10067-019-04918-2

76. J Rheumatol. 2020 Jan 15. pii: jrheum.190929. doi: 10.3899/jrheum.190929. [Epub ahead of print] Juvenile Dermatomyositis and Development of Malignancy: 2 Case Reports and a Literature Review. Cannon L1, Dvergsten J1, Stingl C1. 1From the Division of Pediatric Rheumatology, Department of Pediatrics, Duke Children's Hospital, Durham, North Carolina, USA. Address correspondence to Dr. L. Cannon, Division of Pediatric Rheumatology, Department of Pediatrics, Duke Children's Hospital, 2301 Erwin Road, Durham, North Carolina 27710, USA. E-mail: laura.cannon@duke.edu. PMID: 31941800 DOI:10.3899/jrheum.190929

77. Pediatr Rheumatol Online J. 2020 Jan 15;18(1):5. doi: 10.1186/s12969-020-0402-x. Patient and physician discordance of global disease assessment in juvenile dermatomyositis: findings from the Childhood Arthritis & Rheumatology Research Alliance Legacy Registry. Tory H1,2, Zurakowski D3, Kim S4; CARRA Juvenile Dermatomyositis Quality Measures Workgroup for the CARRA Registry Investigators. Collaborators (119) 1Division of Pediatric Rheumatology, Connecticut Children's Medical Center, 282 Washington Street, Hartford, CT, 06106, USA. htory@connecticutchildrens.org. 2Department of Pediatrics, University of Connecticut School of Medicine, Farmington, CT, USA. htory@connecticutchildrens.org. 3Departments of Anesthesiology and Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. 4Pediatric Rheumatology, Benioff Children's Hospital and University of San Francisco Medical Center, San Francisco, CA, USA. KEYWORDS: Juvenile Dermatomyositis; Patient perspective; Patient reported outcome measures; Physician perspective; Quality of life PMID: 31941511 DOI:10.1186/s12969-020-0402-x

78. Cureus. 2019 Dec 5;11(12):e6296. doi: 10.7759/cureus.6296. A Case of Dermatomyositis Causing Cryptogenic Organizing Pneumonia. Miskoff JA1, Ali R2, Chaudhri M3. 1Internal Medicine, Jersey Shore University Medical Center, Neptune City, USA. 2Internal Medicine, Hackensack Meridian Health Jersey Shore University Medical Center, Neptune City, USA. 3Internal Medicine, Shore Pulmonary, Ocean, USA. KEYWORDS: bronchiolitis obliterans organizing pneumonia; chronic inflammatory conditions; chronic organizing pneumonia; dermatomyositis; interstitial lung diseases PMID: 31938589 PMCID:PMC6942500 DOI: 10.7759/cureus.6296

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-2 du 7 au 20 janvier 2020 (January 7 to 20, 2020)

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79. Indian Pediatr. 2020 Jan 15;57(1):75-76. Pamidronate in Treatment of Calcinosis in Juvenile Dermatomyositis. Giri S1, Parida JR2, Dash M3, Panda M4. 1Department of Paediatrics, IMS and SUM Hospital, Siksha 'O' Anusandhan (Deemed to be University), Bhubaneswar, Odisha, India. 2Department of Rheumatology, IMS and SUM Hospital, Siksha 'O' Anusandhan (Deemed to be University), Bhubaneswar, Odisha, India. 3Department of Paediatrics, IMS and SUM Hospital, Siksha 'O' Anusandhan (Deemed to be University), Bhubaneswar, Odisha, India. m.dash74@gmail.com. 4Department of Skin and VD, IMS and SUM Hospital, Siksha 'O' Anusandhan (Deemed to be University), Bhubaneswar, Odisha, India. PMID: 31937708

80. Physiol Meas. 2020 Jan 14. doi: 10.1088/1361-6579/ab6b49. [Epub ahead of print] Routine monitoring of isometric knee extension strength in patients with muscle impairments using a new portable device: cross-validation against a standard isokinetic dynamometer. Hogrel JY1, Benveniste O2, Bachasson D3. 1Institut de Myologie, Institut de Myologie, GH Pitié-Salpêtrière, Paris Cedex 13, 75651 , FRANCE. 2Internal medicine department, Assistance Publique - Hopitaux de Paris, Paris, Île-de-France, FRANCE. 3Institut de Myologie, Institut de Myologie, Paris Cedex 13, FRANCE. KEYWORDS: dynamometer; knee extension strength; muscle weakness; myositis; outcome measures PMID: 31935703 DOI:10.1088/1361-6579/ab6b49

81. Mediterr J Hematol Infect Dis. 2020 Jan 1;12(1):e2020002. doi: 10.4084/MJHID.2020.002. eCollection 2020. Chronic Graft-Versus-Host-Disease-Related Polymyositis: a 17-Months-Old Child with a Rare and Late Complication of Haematopoietic Stem Cell Transplantation. Chinello M1, Balter R1, De Bortoli M1, Vitale V1, Zaccaron A1, Bonetti E1, Tonin P2, Vattemi G2, Guglielmi V2, Cesaro S1. 1Pediatric Hematology Oncology, Azienda Ospedaliera Universitaria Integrata, Verona, Italy. 2Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Italy. KEYWORDS: Chronic graft-versus-host-disease; Emapalumab; Hemophagocytic Lymphohistiocytosis; Methylprednisolone; Polymyositis; Rituximab; Sirolimus PMID: 31934312 PMCID:PMC6951354 DOI:10.4084/MJHID.2020.002

82. Best Pract Res Clin Obstet Gynaecol. 2019 Oct 18. pii: S1521-6934(19)30147-6. [Epub ahead of print] Pregnancy in myositis and scleroderma. Munira S1, Christopher-Stine L2. 1Saint Agnes Hospital Internal Medicine Residency Program, Ascension Health, Postal Address: 10003, Autumn view lane, Ellicott city, Baltimore, MD-21042, USA. 2Johns Hopkins University School of Medicine, 5200 Eastern Avenue, Mason F.Lord Center Tower, Baltimore, MD 21224, USA. Electronic address: LChrist4@jhmi.edu. KEYWORDS: Idiopathic inflammatory myopathies; Myositis; Pregnancy; Reproductive health; Scleroderma PMID: 31928915 DOI:10.1016/j.bpobgyn.2019.10.004

83. Rheumatology (Oxford). 2020 Jan 10. pii: kez642. doi: 10.1093/rheumatology/kez642. [Epub ahead of print] Myofascia-dominant involvement on whole-body MRI as a risk factor for rapidly progressive interstitial lung disease in dermatomyositis. Karino K1, Kono M1, Kono M1, Sakamoto K2, Fujieda Y1, Kato M1, Amengual O1, Oku K1, Yasuda S1, Atsumi T1. 1Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan. 2Department of Radiation Medicine, Faculty of Medicine, Hokkaido University, Sapporo, Japan. KEYWORDS: dermatomyositis; fasciitis; interstitial lung disease; whole-body MRI PMID: 31925431 DOI:10.1093/rheumatology/kez642

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-2 du 7 au 20 janvier 2020 (January 7 to 20, 2020)

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84. J Dtsch Dermatol Ges. 2020 Jan 10. doi: 10.1111/ddg.14014. [Epub ahead of print]

Eyelid edema as first manifestation of anti-MDA5 positive dermatomyositis with rapidly progressive interstitial lung disease: A case report. Ludriksone L1, Pfeil A2, Schliemann S1, Elsner P1. 1Department of Dermatology, University Hospital Jena, Jena, Germany. 2Department of Rheumatology, Clinic of Internal Medicine, University Hospital Jena, Jena, Germany. PMID: 31922645 DOI:10.1111/ddg.14014

85. Eur J Rheumatol. 2020 Jan 6:1-2. doi: 10.5152/eurjrheum.2019.19162. [Epub ahead of print] Immune-mediated necrotizing myopathy associated with antibodies to the signal recognition particle: A rare cause of hyperCKaemia. Meireles E1, Malheiro J1, Taipa R2, Alves M1. 1Department Internal Medicine, Centro Hospitalar de Entre o Douro e Vouga, Santa Maria da Feira, Portugal. 2Department of Neurosciences, Centro Hospitalar do Porto, Porto, Portugal. PMID: 31922478 DOI:10.5152/eurjrheum.2019.19162

86. Clin Rheumatol. 2020 Jan 9. doi: 10.1007/s10067-019-04914-6. [Epub ahead of print] Prevalence of polymyalgia rheumatica in a cohort of patients with idiopathic inflammatory myopathy. Douglass-Molloy H1, Limaye V2,3. 1Rheumatology Department, Royal Adelaide Hospital, Adelaide, Australia. hannah.douglassmolloy@gmail.com. 2Rheumatology Department, Royal Adelaide Hospital, Adelaide, Australia. 3Discipline of Medicine, University of Adelaide, North Tce, Adelaide, Australia. KEYWORDS: HMGCR antibody; Idiopathic inflammatory myopathy; Polymyalgia rheumatica; Prevalence PMID: 31919772 DOI:10.1007/s10067-019-04914-6

87. Autoimmun Rev. 2020 Jan 6:102465. doi: 10.1016/j.autrev.2020.102465. [Epub ahead of print] Anti-RNP antibodies delineate a subgroup of myositis: A systematic retrospective study on 46 patients. Wesner N1, Uruha A2, Suzuki S3, Mariampillai K1, Granger B4, Champtiaux N1, Rigolet A1, Schoindre Y5, Lejeune S6, Guillaume-Jugnot P1, Vautier M1, Hervier B1, Simon A1, Granier F7, Gallay L8, Nishino I9, Benveniste O1, Allenbach Y10. 1Department of Internal Medicine and Clinical Immunology, Sorbonne Université, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France. 2Department of Internal Medicine and Clinical Immunology, Sorbonne Université, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1, Musashidai, Fuchu, 183-0042 Tokyo, Japan. 3Department of Neurology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160-8582 Tokyo, Japan. 4Department of Public Health, Pitié Salpétrière Hospital, 84 Boulevard de l'Hôpital, 75013 Paris, France. 5Internal Medicine Department, Foch Hospital, 40 Rue Worth, 92150 Suresnes, France. 6Internal Medicine Department, Avicennes Hospital, 125, rue de Stalingrad, 93000 Bobigny, France. 7Internal Medicine Department, Centre Hospitalier François Quesnay, 62 rue Saint Vincent, 78201 Mantes la Jolie, France. 8Internal Medicine Department, Hospices Civils de Lyon, Neuro-Myo-Gène Institut, INSERM U1217, 68008 Lyon, France. 9Department of Neuromuscular Research, National Institute of Neuroscience and Department of Genome Medicine Development, Medical Genome Center National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, 187-8551 Tokyo, Japan. 10Department of Internal Medicine and Clinical Immunology, Sorbonne Université, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France. Electronic address: yves.allenbach@aphp.fr. PMID: 31918028 DOI:10.1016/j.autrev.2020.102465

88. Int J Rheum Dis. 2020 Jan 8. doi: 10.1111/1756-185X.13788. [Epub ahead of print] A case of simultaneous onset of anti-melanoma differentiation-associated gene 5 antibody-positive dermatomyositis accompanied by interstitial pneumonia and pulmonary tuberculosis. Fujimoto S1, Saito K1, Kuwano K2. 1Division of Respiratory Medicine, Department of Internal Medicine, The Jikei University Daisan Hospital, Tokyo, Japan. 2Division of Respiratory Medicine, Department of Internal Medicine, The Jikei University School of Medicine, Tokyo, Japan. PMID: 31916372 DOI:10.1111/1756-185X.13788

Bibliographie sur les maladies neuromusculaires

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89. Arthritis Res Ther. 2020 Jan 8;22(1):5. doi: 10.1186/s13075-019-2093-6.

Statin-induced anti-HMGCR myopathy: successful therapeutic strategies for corticosteroid-free remission in 55 patients. Meyer A1, Troyanov Y2,3, Drouin J2,4, Oligny-Longpré G2,5, Landon-Cardinal O2,5,6, Hoa S2,5,6, Hervier B7, Bourré-Tessier J2,5,6, Mansour AM2,8, Hussein S2,5, Morin V9, Rich E2,5,6, Goulet JR2,5, Chartrand S2,10, Hudson M11,12,13, Nehme J2,8, Makhzoum JP2,8, Zarka F2,8, Villeneuve E2,5, Raynauld JP2,5, Landry M2,8, O'Ferrall EK14,15,16, Ferreira J17,18, Ellezam B17,19, Karamchandani J15,16, Larue S20,21, Massie R14,15, Isabelle C20,22, Deschênes I20,23, Leclair V11,12, Couture H24,25, Targoff IN26,27, Fritzler MJ28, Senécal JL29,30,31. 1Faculté de médecine, Université de Strasbourg, Service de rhumatologie et Centre de références des maladies autoimmunes rares, Hôpitaux universitaires de Strasbourg, Strasbourg, France. 2Department of Medicine, Faculty of Medicine, University of Montreal, Montreal, Québec, Canada. 3Division of Rheumatology, Hôpital du Sacré-Coeur, Montreal, Québec, Canada. 4Division of Rheumatology, Centre hospitalier affilié universitaire régional de Trois-Rivières, Trois-Rivières, Québec, Canada. 5Division of Rheumatology, Centre Hospitalier de l'Université de Montréal (CHUM), 264, Boulevard René-Lévesque Est, Montréal, Québec, H2X 1P1, Canada. 6CHUM Research Center, Montréal, Québec, Canada. 7Service de médecine interne et immunologie clinique, Hôpital Pitié-Salpêtrière, Assistance publique Hôpitaux de Paris, Paris, France. 8Division of Internal Medicine, Hôpital du Sacré-Coeur, Montréal, Québec, Canada. 9Faculty of Pharmacy, Laval University, Québec City, Québec, Canada. 10Division of Rheumatology, Hôpital Maisonneuve-Rosemont, Montréal, Québec, Canada. 11Department of Medicine, McGill University, Montreal, Canada. 12Division of Rheumatology, Jewish General Hospital, Montreal, Canada. 13Lady Davis Institute, Jewish General Hospital, Montreal, Canada. 14Department of Neurology, McGill University, Montreal, Canada. 15Montreal Neurological Institute and Hospital, Montreal, Canada. 16Department of Pathology, McGill University, Montreal Neurological Institute and Hospital, Montreal, Québec, Canada. 17Department of Pathology and Cell Biology, Faculty of Medicine, University of Montreal, Montreal, Canada. 18Department of Pathology, Hôpital Maisonneuve-Rosemont, Montreal, Canada. 19Department of Pathology, Hôpital Sainte-Justine, Montreal, Canada. 20Department of Medicine, Sherbrooke University, Sherbrooke, Québec, Canada. 21Division of Neurology, Hôpital Charles-Lemoyne, Longueuil, Canada. 22Division of Rheumatology, Hôpital Charles-Lemoyne, Longueuil, Québec, Canada. 23Hôpital du Haut-Richelieu, Saint-Jean-sur-Richelieu, Québec, Canada. 24Departement of Medicine, Laval University, Québec City, Canada. 25Centre Hospitalier Universitaire de Québec, Québec City, Québec, Canada. 26Veterans Affairs Medical Center, University of Oklahoma Health Sciences Center, Oklahoma City, USA. 27Oklahoma Medical Research Foundation, Oklahoma City, OK, USA. 28Department of Medicine, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada. 29Department of Medicine, Faculty of Medicine, University of Montreal, Montreal, Québec, Canada. dr.j.l.senecal.md@gmail.com. 30Division of Rheumatology, Centre Hospitalier de l'Université de Montréal (CHUM), 264, Boulevard René-Lévesque Est, Montréal, Québec, H2X 1P1, Canada. dr.j.l.senecal.md@gmail.com. 31CHUM Research Center, Montréal, Québec, Canada. dr.j.l.senecal.md@gmail.com. KEYWORDS: Anti-HMGCR myopathy; Autoimmune myositis; Corticosteroid-free therapy; IVIG; Immune-mediated necrotizing myopathy; Immunosuppressant; Remission; Statin; Therapy PMID: 31915059 PMCID:PMC6950801 DOI:10.1186/s13075-019-2093-6

90. Int J Clin Exp Pathol. 2018 Aug 1;11(8):3984-3993. eCollection 2018. Comparative immunoprofiling of polymyositis and dermatomyositis muscles. Huang K1,2, Li QX1, Bi FF1, Duan HQ1, Mastaglia F3,4, Luo YB1, Yang H1. 1Department of Neurology, Xiangya Hospital, Central South University Changsha, China. 2Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine Nagoya, Japan. 3Perron Institute for Neurological and Translational Science Nedlands, Australia. 4Institute for Immunology & Infectious Diseases, Murdoch University Perth, Australia. KEYWORDS: Polymyositis; dermatomyositis; inflammatory cells; major histocompatibility complex; membrane attack PMID: 31949787 PMCID: PMC6962777

Bibliographie sur les maladies neuromusculaires

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Maladie de Pompe – Pompe disease 91. Am J Med Genet A. 2020 Jan 18. doi: 10.1002/ajmg.a.61481. [Epub ahead of print]

Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy. Yang CF1,2, Niu DM1,2, Tai SK2,3, Wang TH1,2, Su HT4, Huang LY1, Soong WJ1,2,5. 1Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. 2School of Medicine, National Yang-Ming University, Taipei, Taiwan. 3Department of Otolaryngology, Taipei Veterans General Hospital, Taipei, Taiwan. 4Department of Audiology and Speech Language Pathology, Mackay Medical College, Taipei, Taiwan. 5Children's Hospital, China Medical University, Taichung, Taiwan. KEYWORDS: Pompe disease; airway abnormalities; flexible bronchoscopy PMID: 31953985 DOI:10.1002/ajmg.a.61481

92. Biochim Biophys Acta Mol Basis Dis. 2020 Jan 7;1866(5):165662. [Epub ahead of print] Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment. Bragato C1, Carra S2, Blasevich F3, Salerno F3, Brix A3, Bassi A4, Beltrame M5, Cotelli F5, Maggi L3, Mantegazza R3, Mora M6. 1PhD program in Neuroscience, University of Milano-Bicocca, Via Cadore 48, Monza 20900, Italy; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, 20133, Italy. Electronic address: cinzia.bragato@istituto-besta.it. 2Laboratory of Endocrine and Metabolic Research, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, Milan, 20149, Italy. 3Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, 20133, Italy. 4Department of Physics, Politecnico di Milano, Piazza Leonardo da Vinci 32, Milan, 20133, Italy. 5Department of Biosciences, Università degli Studi di Milano, Via Celoria 26, Milan, 20133, Italy. 6Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, 20133, Italy. Electronic address: marina.mora@istituto-besta.it. KEYWORDS: 3-Bromopyruvic acid (3-BrPA); Acid α-glucosidase; Glycogen; Pompe disease; Zebrafish PMID: 31917327 DOI:10.1016/j.bbadis.2020.165662

93. Case Rep Pediatr. 2019 Dec 12;2019:6274979. doi: 10.1155/2019/6274979. eCollection 2019. Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease. Jay AM1, Anne P2, Stockton D3. 1Division of Genetics, Ascension St. John Hospital, Detroit, MI, USA. 2Division of Pediatric Cardiology, Department of Pediatrics, Ascension St. John Children's Hospital, Detroit, MI, USA. 3Department of Genetics, Children's Hospital of Michigan, Detroit, MI, USA. PMID: 31915562 PMCID:PMC6930708 DOI:10.1155/2019/6274979

94. Clin Respir J. 2020 Jan 8. doi: 10.1111/crj.13150. [Epub ahead of print] Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review. Jezela-Stanek A1,2, Chorostowska-Wynimko J1, Tylki-Szymańska A3. 1Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland. 2State Tertiary Vocational School, Oswiecim, Poland. 3Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. KEYWORDS: Fabry disease; Gaucher disease type III; MPS; Niemann-Pick disease type B; enzyme replacement therapy; late-onset Pompe disease; respiratory PMID: 31912638 DOI:10.1111/crj.13150

95. Neuromuscul Disord. 2019 Nov 22. pii: S0960-8966(19)31205-2. [Epub ahead of print] Discontinuation of enzyme replacement therapy in adults with Pompe disease: Evaluating the European POmpe Consortium stop criteria. van Kooten HA1, Harlaar L1, van der Beek NAME1, van Doorn PA1, van der Ploeg AT2, Brusse E3; Erasmus MC Pompe expert committee. Collaborators (19)

Bibliographie sur les maladies neuromusculaires

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1Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands. 2Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands. 3Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands. Electronic address: e.brusse.1@erasmusmc.nl. KEYWORDS: Adult patients; Enzyme replacement therapy; Pompe disease; Start and stop criteria; Treatment discontinuation; Treatment guidelines PMID: 31911071 DOI:10.1016/j.nmd.2019.11.007

96. Mol Ther Methods Clin Dev. 2019 Dec 6;17:133-142. doi: 10.1016/j.omtm.2019.11.020. eCollection 2020 Jun 12. Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease. Han SO1, Li S1, McCall A2, Arnson B1, Everitt JI3, Zhang H1, Young SP1, ElMallah MK2, Koeberl DD1,4. 1Division of Medical Genetics, Duke University School of Medicine, Duke University Medical Center, Durham, NC 27710, USA. 2Division of Pediatric Allergy, Immunology, and Pulmonary Medicine, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA. 3Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA. 4Department of Molecular Genetics and Metabolism, Duke University School of Medicine, Durham, NC 27710, USA. KEYWORDS: Pompe disease; adeno-associated virus vector; glycogen storage disease; infantile PMID: 31909086 PMCID:PMC6938806 DOI:10.1016/j.omtm.2019.11.020

97. Genet Med. 2020 Jan 6. doi: 10.1038/s41436-019-0738-0. [Epub ahead of print] Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature. Khan AA1, Case LE2, Herbert M1, DeArmey S1, Jones H3,4, Crisp K3, Zimmerman K5, ElMallah MK6, Young SP1, Kishnani PS7. 1Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA. 2Division of Physical Therapy, Department of Community and Family Medicine, Duke University School of Medicine, Durham, NC, USA. 3Division of Head and Neck Surgery & Communication Sciences, Department of Surgery Duke University School of Medicine, Durham, NC, USA. 4Division of Speech Pathology and Audiology, Duke University School of Medicine, Durham, NC, USA. 5Division of Pediatric Critical Care Medicine, Duke Clinical Research Institute, Duke University School of Medicine, Durham, NC, USA. 6Division of Pulmonary and Sleep Medicine, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA. 7Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA. priya.kishnani@duke.edu. KEYWORDS: Pompe disease; alglucosidase alfa; enzyme replacement therapy; high dose; recombinant human GAA PMID: 31904026 DOI:10.1038/s41436-019-0738-0

Lipidoses musculaires – Lipid myopathies

98. J Inherit Metab Dis. 2020 Jan 18. doi: 10.1002/jimd.12217. [Epub ahead of print] Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency. Bleeker JC1,2, Visser G1,2, Clarke K3, Ferdinandusse S4, de Haan FH5, Houtkooper RH4, IJlst L4, Kok IL1, Langeveld M6, van der Pol WL7, de Sain-van der Velden MGM1, Sibeijn-Kuiper A8, Takken T9, Wanders RJA2,4, van Weeghel M4,10,11, Wijburg FA2, van der Woude LH12, Wüst RCI4, Cox PJ3, Jeneson JAL8,9,13. 1Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. 2Department of Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. 3Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, United Kingdom. 4Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Bibliographie sur les maladies neuromusculaires

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5ACHIEVE, Center for Applied Research, Faculty of Health, University of Applied Sciences Amsterdam, Amsterdam, The Netherlands. 6Department of Endocrinology and metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. 7Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, University Medical Center Utrecht, The Netherlands. 8Neuroimaging Center, Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, Groningen, The Netherlands. 9Center for Child Development & Exercise, Department of Medical Physiology, University Medical Center Utrecht, Utrecht, The Netherlands. 10Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. 11Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. 12Human Movement Sciences, University Medical Center Groningen, Groningen, The Netherlands. 13Department of Radiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. KEYWORDS: VLCADD; fatty acid oxidation; in vivo 31P MRS; ketone ester; mitochondrial energy transduction; muscle; nutritional ketosis; very long-chain acyl-CoA dehydrogenase PMID: 31955429 DOI:10.1002/jimd.12217

99. Case Rep Crit Care. 2019 Dec 21;2019:1598213. doi: 10.1155/2019/1598213. eCollection 2019. Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency. Dernoncourt A1, Bouchereau J2, Acquaviva-Bourdain C3, Wicker C2, De Lonlay P2, Gourguechon C4, Sevestre H5, Merle PE6, Maizel J1, Brault C1. 1Intensive Care Unit, Amiens University Medical Center, F-80000 Amiens, France. 2Reference Center for Hereditary Metabolic Diseases, Necker Hospital, Public Hospitals of Paris, F-75019 Paris, France. 3Reference Center for Hereditary Metabolic Diseases (Eastern France), Department of Pathology and Biology, Hospices Civil de Lyon, F-69500 Bron, France. 4Department of Internal Medicine and Endocrinology, Abbeville Hospital, F-80100 Abbeville, France. 5Department of Pathological Anatomy and Cytology, Amiens University Medical Center, F-80000 Amiens, France. 6Functional Investigation of the Nervous System Unit, Amiens University Medical Center, F-80000 Amiens, France. PMID: 31934457 PMCID:PMC6942752 DOI: 10.1155/2019/1598213

Myopathies mitochondriales – Mitochondrial myopathies 100. Case Rep Neurol Med. 2019 Dec 27;2019:9312451. doi: 10.1155/2019/9312451. eCollection 2019.

MELAS Missed for Years: Stroke-Like Lesions Are No Indication for Brain Biopsy. Finsterer J1. 1Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria. PMID: 31949962 PMCID:PMC6948273 DOI:10.1155/2019/9312451

101. J Neurol Sci. 2020 Jan 3;410:116670. doi: 10.1016/j.jns.2020.116670. [Epub ahead of print] Muscle biopsy is not diagnostic for MELAS. Finsterer J1. 1Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria. Electronic address: fifigs1@yahoo.de. PMID: 31923614 DOI: 10.1016/j.jns.2020.116670

102. EMBO Mol Med. 2020 Jan 9:e10674. doi: 10.15252/emmm.201910674. [Epub ahead of print] Myopathy reversion in mice after restauration of mitochondrial complex I. Pereira CV1, Peralta S1, Arguello T1, Bacman SR1, Diaz F1, Moraes CT1,2. 1Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA. 2Department of Cell Biology, University of Miami Miller School of Medicine, Miami, FL, USA. KEYWORDS: NDUFS3; adeno-associated virus; complex I; gene therapy; mitochondrial myopathies PMID: 31916679 DOI:10.15252/emmm.201910674

103. Pediatr Nephrol. 2020 Jan 10. doi: 10.1007/s00467-019-04404-6. [Epub ahead of print] Mitochondrial DNA mutations in renal disease: an overview. Govers LP1, Toka HR2, Hariri A3, Walsh SB1, Bockenhauer D4,5. 1Department of Renal Medicine, University College London, London, UK.

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-2 du 7 au 20 janvier 2020 (January 7 to 20, 2020)

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2Manatee Kidney Diseases Consultants, Bradenton, USA. 3Clinical Development, Sanofi Rare Disease, Boston, USA. 4Department of Renal Medicine, University College London, London, UK. d.bockenhauer@ucl.ac.uk. 5Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK. d.bockenhauer@ucl.ac.uk. KEYWORDS: Distal tubulopathies; Mitochondrial DNA; Nephrotic syndrome; Renal Fanconi syndrome; Renal disease; Tubulointerstitial nephritis PMID: 31925537 DOI:10.1007/s00467-019-04404-6

Myopathies myofibrillaires – Myofibrillar myopathies 104. Am J Pathol. 2020 Jan 14. pii: S0002-9440(20)30001-8. doi: 10.1016/j.ajpath.2019.11.005. [Epub ahead of print]

BAG3P215L/KO mice as a model of BAG3P209L myofibrillar myopathy. Robertson R1, Conte TC1, Dicaire MJ2, Rymar VV3, Sadikot AF3, Bryson-Richardson RJ4, Lavoie JN5, O'Ferrall E6, Young JC7, Brais B8. 1Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Québec, Canada. 2Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada. 3Cone Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University Montreal, Quebec, Canada. 4School of Biological Sciences, Monash University, Melbourne, Australia. 5Centre de Recherche sur le Cancer de l'Université Laval, Ville de Québec, Quebec, Canada; Oncologie, Centre de Recherche du Centre Hospitalier Universitaire (CHU) de Québec-Université Laval, Ville de Québec, Quebec, Canada; Département de Biologie Moléculaire, Biochimie Médicale et Pathologie, Université Laval, Ville de Québec, Quebec, Canada. 6Rare Neurological Diseases Group, Montreal Neurological Institute, McGill University, Montreal, Quebec. 7Department of Biochemistry, McGill University, Montreal, Canada. 8Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada. Electronic address: bernard.brais@mcgill.ca. PMID: 31953038 DOI:10.1016/j.ajpath.2019.11.005

Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome 105. Front Neurol. 2019 Dec 20;10:1300. doi: 10.3389/fneur.2019.01300. eCollection 2019.

Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK-Congenital Myasthenic Syndrome. Pinto MV1, Saw JL1, Milone M1. 1Department of Neurology, Mayo Clinic, Rochester, MN, United States. KEYWORDS: CMS; MuSK; Neuromuscular Junction disorder; congenital myasthenic syndrome; limb girdle; muscle skeletal receptor tyrosine kinase; vocal cord paralysis PMID: 31920924 PMCID:PMC6934021 DOI:10.3389/fneur.2019.01300

Syndrome de Lambert-Eaton – Lambert-eaton myasthenic syndrome 106. J Neuroimmunol. 2020 Jan 10;340:577149. doi: 10.1016/j.jneuroim.2020.577149. [Epub ahead of print]

Neuronal antibody detection and improved lung cancer prediction in Lambert-Eaton myasthenic syndrome. Maddison P1, Gozzard P2, Sadalage G3, Ambrose PA3, Chapman CJ4, Murray A5, Thomsen S6, Berretta A6, Lang B6. 1Department of Neurology, Nottingham University Hospitals NHS Trust, Queen's Medical Centre, Nottingham NG7 2UH, UK. Electronic address: paul.maddison@nhs.net. 2Department of Neurology, Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital, Sheffield S10 2JF, UK. 3Division of Neurology, University of Nottingham, Nottingham University Hospitals NHS Trust, Queens Medical Centre, Nottingham, UK. 4Department of Pathology, Nottingham University Hospitals NHS Trust, Queen's Medical Centre, Nottingham NG7 2UH, UK. 5Oncimmune, Ltd., Nottingham, United Kingdom. 6Nuffield Department of Clinical Neurosciences, University of Oxford, West Wing, John Radcliffe Hospital, Oxford OX3 9DS, UK. KEYWORDS: Antibodies; Lambert-Eaton myasthenic syndrome; Prognosis; Small-cell lung cancer PMID: 31951874 DOI:10.1016/j.jneuroim.2020.577149

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-2 du 7 au 20 janvier 2020 (January 7 to 20, 2020)

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Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) 107. Eur J Med Genet. 2020 Jan 14:103845. doi: 10.1016/j.ejmg.2020.103845. [Epub ahead of print]

The impact of exome sequencing on diagnostic yield of muscular dystrophies in consanguineous families. Dardas Z1, Swedan S2, Al-Sheikh Qassem A3, Azab B4. 1Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid, Jordan; Departments of Pathology and Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, Jordan. 2Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid, Jordan. 3Dr. Ahmad Qassem Clinic, Amman, Jordan. 4Departments of Pathology and Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, Jordan; Human and Molecular Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA, USA. Electronic address: azabbm@mymail.vcu.edu. KEYWORDS: Consanguinity; DYSF; Exome sequencing (ES); Limb girdle muscular dystrophies; Muscular dystrophy PMID: 31953240 DOI:10.1016/j.ejmg.2020.103845

108. J Am Heart Assoc. 2020 Jan 21;9(2):e014004. doi: 10.1161/JAHA.119.014004. Epub 2020 Jan 14. Cardiac Intervention Improves Heart Disease and Clinical Outcomes in Patients With Muscular Dystrophy in a Multidisciplinary Care Setting. Nikhanj A1,2, Yogasundaram H1,2, Miskew Nichols B1,2, Richman-Eisenstat J3, Phan C4, Bakal JA5, Siddiqi ZA4, Oudit GY1,2. 1Division of Cardiology Faculty of Medicine and Dentistry University of Alberta Edmonton Canada. 2Mazankowski Alberta Heart Institute Faculty of Medicine and Dentistry University of Alberta Edmonton Canada. 3Division of Pulmonary Medicine Faculty of Medicine and Dentistry University of Alberta Edmonton Canada. 4Division of Neurology Faculty of Medicine and Dentistry University of Alberta Edmonton Canada. 5Department of Medicine Faculty of Medicine and Dentistry University of Alberta Edmonton Canada. KEYWORDS: heart disease; medical therapy; multidisciplinary care; muscular dystrophy; outcome data PMID: 31931688 DOI:10.1161/JAHA.119.014004

Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) 109. Front Cell Dev Biol. 2019 Dec 10;7:291. doi: 10.3389/fcell.2019.00291. eCollection 2019.

Protein Amphipathic Helix Insertion: A Mechanism to Induce Membrane Fission. Zhukovsky MA1, Filograna A1, Luini A1, Corda D1, Valente C1. 1Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy. KEYWORDS: amphipathic helix; fission-inducing protein; lipid cofactor; lipid-binding site; membrane fission; membrane scission; neck-hemifission model; shallow insertion PMID: 31921835 PMCID:PMC6914677 DOI:10.3389/fcell.2019.00291

110. Orphanet J Rare Dis. 2020 Jan 13;15(1):11. doi: 10.1186/s13023-019-1291-2. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. Bevilacqua JA1,2,3, Guecaimburu Ehuletche MDR4, Perna A5, Dubrovsky A6, Franca MC Jr7, Vargas S8, Hegde M9, Claeys KG10,11, Straub V12, Daba N13, Faria R14, Periquet M15, Sparks S16, Thibault N16, Araujo R17. 1Departamento de Neurología y Neurocirugía, Hospital Clínico, Universidad de Chile, Santiago, Chile. 2Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile, Santiago, Chile. 3Departamento de Neurología y Neurocirugía, Clínica Dávila, Santiago, Chile. 4Genetics Department, UDELAR, Montevideo, Uruguay. 5Institute of Neurology, Hospital de Clínicas, School of Medicine, UDELAR, Montevideo, Uruguay. 6Institute of Neuroscience, Favaloro Foundation, Buenos Aires, Argentina. 7Department of Neurology, University of Campinas-UNICAMP, Campinas, Sao Paulo, Brazil. 8Center of Neurology and Neurosurgery, Mexico City, Mexico. 9Global Laboratory Services, Diagnostics, PerkinElmer, Waltham, MA, USA. 10Department of Neurology, University Hospitals Leuven, Leuven, Belgium. 11Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Campus Gasthuisberg, Leuven, Belgium.

Bibliographie sur les maladies neuromusculaires

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12John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Centre for Life, Newcastle, United Kingdom. 13Sanofi, Dubai, United Arab Emirates. 14Sanofi, Sao Paulo, Brazil. 15Sanofi, Amsterdam, The Netherlands. 16Sanofi Genzyme, Cambridge, MA, USA. 17Sanofi Genzyme, Cambridge, MA, USA. Roberto.araujo@sanofi.com. KEYWORDS: Latin America; Limb-girdle muscle weakness; Next-generation sequencing; Pompe disease PMID: 31931849 PMCID:PMC6958675 DOI:10.1186/s13023-019-1291-2

111. Urol Case Rep. 2019 Dec 14;29:101105. doi: 10.1016/j.eucr.2019.101105. eCollection 2020 Mar. A case report of nivolumab-induced myasthenia gravis and myositis in a metastatic renal cell carcinoma patient. Nakanishi S1, Nishida S1, Miyazato M2, Goya M1, Saito S1. 1Department of Urology, Graduate School of Medicine, University of the Ryukyus, Japan. 2Department of Systems Physiology, Graduate School of Medicine, University of the Ryukyus, Japan. KEYWORDS: AChR, acetylcholine receptor; CPK, creatine phosphokinase; ICI, immune checkpoint inhibitors; IMDC, International Metastatic RCC Database Consortium; MG, myasthenia gravis; PD-1, programmed cell death-1; PLE, pleura; PUL, pulmonale; RCC, renal cell carcinoma; irAE, immune-related adverse events PMID: 31908963 PMCID:PMC6940690 DOI:10.1016/j.eucr.2019.101105

112. Int J Clin Exp Pathol. 2018 May 1;11(5):2907-2911. eCollection 2018. Pathological findings in sporadic inclusion body myositis and GNE myopathy. Zhang Y1, Pu C1, Lu X1, Shi Q1, Wang H1, Ban R1,2, Liu H1, Wei M1,2, Song H1,2. 1Department of Neurology, PLA General Hospital Beijing, China. 2School of Medicine, Nankai University Tianjin, China. KEYWORDS: GNEM; muscular pathology; sIBM PMID: 31938415 PMCID:PMC6958237

113. Pulm Med. 2019 Dec 26;2019:2734054. doi: 10.1155/2019/2734054. eCollection 2019. Respiratory Involvement in Patients with Neuromuscular Diseases: A Narrative Review. Voulgaris A1,2, Antoniadou M1,3, Agrafiotis M1,3, Steiropoulos P1,2. 1MSc Program in Sleep Medicine, Medical School, Democritus University of Thrace, Alexandroupolis, Greece. 2Department of Pneumonology, Medical School, Democritus University of Thrace, Alexandroupolis, Greece. 3Department of Pneumonology, General Hospital "G. Papanikolaou", Thessaloniki, Greece. PMID: 31949952 PMCID:PMC6944960 DOI:10.1155/2019/2734054

114. J Rehabil Med. 2020 Jan 14. doi: 10.2340/16501977-2642. [Epub ahead of print] Description of orthotic properties and effects evaluation of ankle-foot orthoses in non-spastic calf muscle weakness. Waterval NFJ1, Brehm MA, Harlaar J, Nollet F. 1Rehabilitation, Amsterdam UMC, , 1105AZ Amsterdam, The Netherlands. n.f.waterval@amc.uva.nl. KEYWORDS: disease management; gait; muscle weakness; neuromuscular disease; orthoses; rehabilitation; ankle-foot orthosis PMID: 31934727 DOI:10.2340/16501977-2642

115. Curr Opin Biotechnol. 2020 Jan 8;63:79-88. doi: 10.1016/j.copbio.2019.12.006. [Epub ahead of print] Organs-on-a-chip as model systems for multifactorial musculoskeletal diseases. Arrigoni C1, Lopa S2, Candrian C3, Moretti M4. 1Regenerative Medicine Technologies Laboratory, Ente Ospedaliero Cantonale (EOC), via Tesserete 46, 6900 Lugano, Switzerland. 2IRCCS Istituto Ortopedico Galeazzi, Cell and Tissue Engineering Laboratory, via R. Galeazzi 4, 20161 Milano, Italy. 3Unità di Ortopedia e Traumatologia, Ospedale Regionale di Lugano, Ente Ospedaliero Cantonale (EOC), via Tesserete 46, 6900 Lugano, Switzerland.

Bibliographie sur les maladies neuromusculaires

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4Regenerative Medicine Technologies Laboratory, Ente Ospedaliero Cantonale (EOC), via Tesserete 46, 6900 Lugano, Switzerland; IRCCS Istituto Ortopedico Galeazzi, Cell and Tissue Engineering Laboratory, via R. Galeazzi 4, 20161 Milano, Italy. PMID: 31927146 DOI:10.1016/j.copbio.2019.12.006

116. Pediatr Pulmonol. 2020 Feb;55(2):510-513. doi: 10.1002/ppul.24614. Epub 2020 Jan 7. Effect of mechanical insufflation-exsufflation in children with neuromuscular weakness. Veldhoen ES1, Verweij-van den Oudenrijn LP1, Ros LA2, Hulzebos EH3, Papazova DA2, van der Ent CK4, van der Pol LW5, Nijman J2, Wösten-van Asperen RM2. 1Pediatric Intensive Care Unit and Center of Home Mechanical Ventilation, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. 2Pediatric Intensive Care Unit, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. 3Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. 4Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. 5Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands. KEYWORDS: cough; neuromuscular disease; pediatrics PMID: 31909568 DOI:10.1002/ppul.24614

117. Am Fam Physician. 2020 Jan 15;101(2):95-108. Muscle Weakness in Adults: Evaluation and Differential Diagnosis. Larson ST1, Wilbur J1. 1University of Iowa Carver College of Medicine, Iowa City, IA, USA. PMID: 31939642

118. Nat Protoc. 2020 Jan 13. doi: 10.1038/s41596-019-0248-1. [Epub ahead of print] On-chip 3D neuromuscular model for drug screening and precision medicine in neuromuscular disease. Osaki T1, Uzel SGM2,3, Kamm RD4,5,6. 1Department of Mechanical Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA. 2Wyss Institute for Biologically Inspired Engineering, Harvard University, Cambridge, MA, USA. 3John A. Paulson School of Engineering and Applied Sciences, Harvard University, Cambridge, MA, USA. 4Department of Mechanical Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA. rdkamm@mit.edu. 5Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA. rdkamm@mit.edu. 6Koch Institute for Integrative Cancer Research, Cambridge, MA, USA. rdkamm@mit.edu. PMID: 31932771 DOI:10.1038/s41596-019-0248-1

Divers – Miscellaneous 119. Anaesth Crit Care Pain Med. 2020 Jan 8. pii: S2352-5568(20)30010-2. [Epub ahead of print]

Guidelines on muscle relaxants and reversal in anaesthesia. Plaud B1, Baillard C2, Bourgain JL3, Bouroche G4, Desplanque L5, Devys JM6, Fletcher D7, Fuchs-Buder T8, Lebuffe G9, Meistelman C8, Motamed C3, Raft J10, Servin F5, Sirieix D11, Slim K12, Velly L13, Verdonk F14, Debaene B15. 1Université de Paris, Assistance Publique Hôpitaux de Paris, service d'anesthésie et de réanimation, hôpital Saint-Louis, 1 avenue Claude Vellefaux, 75010 Paris, France. Electronic address: benoit.plaud@aphp.fr. 2Université de Paris, Assistance Publique Hôpitaux de Paris, service d'anesthésie et de réanimation, hôpital Cochin-Port Royal, 27 rue du Faubourg Saint-Jacques 75014 Paris, France. 3Institut Gustave-Roussy, service d'anesthésie, 114 rue Édouard-Vaillant, 94800 Villejuif, France. 4Centre Léon-Bérard, service d'anesthésie, 28 promenade Léa et Napoléon Bullukian, 69008 Lyon, France. 5Assistance Publique Hôpitaux de Paris, service d'anesthésie et de réanimation, hôpital Bichat-Claude-Bernard, 46 rue Henri Huchard, 75877 Paris cedex, France. 6Fondation Ophtalmologique Adolphe de Rothschild, service d'anesthésie et de réanimation, 29 rue Manin 75019 Paris, France. 7Université de Versailles Saint-Quentin en Yvelines, Assistance Publique Hôpitaux de Paris, hôpital Ambroise Paré, service d'anesthésie, 9 avenue Charles de Gaulle 92100 Boulogne Billancourt, France.

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8Université de Lorraine, CHU de Brabois, service d'anesthésie et de réanimation, rue du Morvan, 54511 Vandœuvre-lès-Nancy, France. 9Université de Lille, hôpital Huriez, service d'anesthésie et de réanimation, rue Michel Polonovski, 59037 Lille, France. 10Institut de cancérologie de Lorraine, service d'anesthésie, 6 avenue de Bourgogne, 54519 Vandœuvre-lès-Nancy, France. 11Groupe polyclinique Marzet-Navarre, service d'anesthésie, 40 boulevard d'Alsace Lorraine, 64000 Pau, France. 12Université d'Auvergne, service de chirurgie digestive et hépatobiliaire, hôpital d'Estaing, 1 rue Lucie Aubrac, 63100 Clermont-Ferrand, France. 13Université Aix-Marseille, hôpital de la Timone adultes, service d'anesthésie et de réanimation, 264 rue Saint-Pierre 13385 Marseille, cedex 05, France. 14Sorbonne Université, hôpital Saint-Antoine, 84 rue du Faubourg Saint-Antoine, 75012 Paris, France. 15Université de Poitiers, service d'anesthésie et de réanimation, CHU de Poitiers, BP 577, 86021 Poitiers cedex, France. KEYWORDS: Monitoring; Muscle relaxants; Neuromuscular; Reversal; Update of experts’ guidelines PMID: 31926308 DOI:10.1016/j.accpm.2020.01.005

120. Sleep Breath. 2020 Jan 10. doi: 10.1007/s11325-019-02006-y. [Epub ahead of print] Polysomnography outcomes of sleep endoscopy-directed intervention in surgically naïve children at risk for persistent obstructive sleep apnea. Kirkham E1,2, Ma CC3, Filipek N3, Horn DL3,4, Johnson K3,4, Chen ML4,5, Parikh SR3,4. 1Department of Otolaryngology: Head and Neck Surgery, The University of Michigan, Ann Arbor, MI, USA. ekirkham@umich.edu. 2Mott Children's Hospital, University of Michigan Medical Center, 1540 E. Hospital Dr. CW 5-702, SPC 4241, Ann Arbor, MI, 48109, USA. ekirkham@umich.edu. 3Department of Otolaryngology: Head and Neck Surgery, The University of Washington School of Medicine, Seattle, WA, USA. 4Seattle Children's Hospital, Seattle, WA, USA. 5Department of Pulmonary and Sleep Medicine, Seattle Children's Hospital, Seattle, WA, USA. KEYWORDS: DISE; Pediatric; Sleep apnea; Sleep endoscopy PMID: 31919717 DOI:10.1007/s11325-019-02006-y

121. Nat Rev Drug Discov. 2020 Jan;19(1):1-2. doi: 10.1038/d41573-019-00199-1. A decade of optimizing drug development for rare neuromuscular disorders through TACT. Wagner KR, De Luca A, Caizergues D, Dowling J, Goemans N, Gordish-Dressman H, Grounds MD, Kelly M, Mayhew A, McNally EM, Zoetis T, Lee J, Turner C, Wells DJ, Csimma C, Straub V. PMID: 31907422 DOI:10.1038/d41573-019-00199-1

122. J Neuroeng Rehabil. 2020 Jan 6;17(1):2. doi: 10.1186/s12984-019-0624-7. Clinician awareness of brain computer interfaces: a Canadian national survey. Letourneau S1, Zewdie ET1, Jadavji Z1,2, Andersen J3, Burkholder LM1,2, Kirton A4,5,6,7,8. 1Department of Pediatrics, Cumming School of Medicine, University of Calgary, 2500 University Drive N.W., Calgary, AB, T2N 1N4, Canada. 2Clinical Neurosciences, Cumming School of Medicine, University of Calgary, 2500 University Drive N.W, Calgary, AB, AB T2N 1N4, Canada. 3Department of Pediatrics, University of Alberta, 116 St. and 85 Ave, Edmonton, AB T6G 2R3, Canada. 4Department of Pediatrics, Cumming School of Medicine, University of Calgary, 2500 University Drive N.W., Calgary, AB, T2N 1N4, Canada. Adam.Kirton@albertahealthservices.ca. 5Clinical Neurosciences, Cumming School of Medicine, University of Calgary, 2500 University Drive N.W, Calgary, AB, AB T2N 1N4, Canada. Adam.Kirton@albertahealthservices.ca. 6Department of Pediatrics, University of Alberta, 116 St. and 85 Ave, Edmonton, AB T6G 2R3, Canada. Adam.Kirton@albertahealthservices.ca. 7Alberta Children's Hospital Research Institute, 28 Oki Drive S.W, Calgary, AB, T3B6A8, Canada. Adam.Kirton@albertahealthservices.ca. 8Hotchkiss Brain Institute, University of Calgary, 2500 University Drive N.W, Calgary, AB, T2N 1N4, Canada. Adam.Kirton@albertahealthservices.ca. KEYWORDS: Brain computer interface; Cerebral palsy; Neuro-rehabilitation; Neuromuscular disorders; Quality of life; Rehabilitation; Spinal cord injury; Stroke PMID: 31907010 PMCID:PMC6945584 DOI:10.1186/s12984-019-0624-7

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123. Conf Proc IEEE Eng Med Biol Soc. 2019 Jul;2019:7165-7168. doi: 10.1109/EMBC.2019.8857463.

Order Frequency Spectral Correlation Based Cyclo-nonstationary Analysis of Surface EMG Signals in Biceps Brachii Muscles. Jero SE, Ramakrishnan S. PMID: 31947487 DOI:10.1109/EMBC.2019.8857463

124. Conf Proc IEEE Eng Med Biol Soc. 2019 Jul;2019:2238-2241. doi: 10.1109/EMBC.2019.8857067. Assessment of Lumbar Muscles Coordinated Activity Based on High-Density Surface Electromyography: A Pilot Study. Jiang N, Xue J, Li G. PMID: 31946346 DOI:10.1109/EMBC.2019.8857067

125. Conf Proc IEEE Eng Med Biol Soc. 2019 Jul;2019:6616-6619. doi: 10.1109/EMBC.2019.8857299. The Influence of Force Level and Motor Unit Coherence on Nonlinear Surface EMG Features Examined Using Model Simulation. McManus L, Botelho DP, Flood MW, Lowery MM. PMID: 31947358 DOI:10.1109/EMBC.2019.8857299

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Certaines références présentées par maladies sont triées ci-dessous par spécialités. Some of citations presented by diseases are sorted below by specialties.

Anatomopathologie – Anatomical pathology

J Neurol Sci. 2020 Jan 3;410:116670. doi: 10.1016/j.jns.2020.116670. [Epub ahead of print] Muscle biopsy is not diagnostic for MELAS. Finsterer J1. 1Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria. Electronic address: fifigs1@yahoo.de. PMID: 31923614 DOI: 10.1016/j.jns.2020.116670

Cardiologie – Cardiology Int J Cardiol. 2020 Feb 1;300:48. doi: 10.1016/j.ijcard.2019.11.084.

Myasthenic crises triggering Takotsubo cardiomyopathy. Scorza FA1, Fiorini AC2, Scorza CA3, Finsterer J4. 1Disciplina de Neurociência, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM/UNIFESP), São Paulo, Brazil. Electronic address: scorza@unifesp.br. 2Programa de Estudos Pós-Graduado em Fonoaudiologia, Pontifícia Universidade Católica de São Paulo (PUC-SP), Departamento de Fonoaudiologia, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM/UNIFESP), São Paulo, Brazil. Electronic address: acfiorini@pucsp.br. 3Disciplina de Neurociência, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM/UNIFESP), São Paulo, Brazil. 4Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria. Electronic address: fifigs1@yahoo.de. Related article: Desai R et al. Burden and impact of takotsubo syndrome in myasthenic crisis: A national inpatient perspective on the under-recognized but potentially fatal association. Int J Cardiol. 2020 Jan 15;299:63-66. Available in Myobase: http://www.myobase.org/index.php?lvl=notice_display&id=68820 KEYWORDS: Aetylcholine; Broken heart; Crisis; Myasthenia; Stress PMID: 31928654 DOI:10.1016/j.ijcard.2019.11.084

Int J Cardiol. 2020 Feb 1;300:47. doi: 10.1016/j.ijcard.2019.11.112. Reply to: Myasthenic crises triggering Takotsubo cardiomyopathy. Desai R1, Sachdeva R2, Kumar G3. 1Division of Cardiology, Atlanta VA Medical Center, Decatur, GA, USA. Electronic address: rdesa30@emory.edu. 2Division of Cardiology, Atlanta VA Medical Center, Decatur, GA, USA; Division of Cardiology, Emory University School of Medicine, Decatur, GA, USA; Division of Cardiology, Morehouse School of Medicine, Atlanta, GA, USA; Division of Cardiology, Medical College of Georgia, Augusta, GA, USA. 3Division of Cardiology, Atlanta VA Medical Center, Decatur, GA, USA; Division of Cardiology, Emory University School of Medicine, Decatur, GA, USA. KEYWORDS: Broken heart; Myasthenia gravis; Myasthenic crisis; Stress-induced cardiomyopathy; Takotsubo cardiomyopathy; Takotsubo syndrome PMID: 31928653 DOI:10.1016/j.ijcard.2019.11.112

BMC Neurol. 2020 Jan 17;20(1):29. doi: 10.1186/s12883-020-1599-5. Secondary cardiac involvement in anti-SRP-antibody-positive myopathy: an 87-year-old woman with heart failure symptoms as the first clinical presentation. Hara A1, Amano R2, Yokote H1, Ijima M1, Zeniya S1, Uchihara T1, Yada S3, Masumura M3, Takei H3, Nishino I4, Toru S1. 1Department of Neurology, Nitobe Memorial Nakano General Hospital, 4-59-16 Chuo Nakano, Tokyo, 164-8607, Japan. 2Department of Neurology, Nitobe Memorial Nakano General Hospital, 4-59-16 Chuo Nakano, Tokyo, 164-8607, Japan. d10sm003@yahoo.co.jp. 3Department of Internal Medicine, Nitobe Memorial Nakano General Hospital, 4-59-16 Chuo Nakano, Tokyo, 164-8607, Japan. 4Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, 187-8502, Japan. KEYWORDS: Anti-signal recognition particle antibody; Colon carcinoma; Myocarditis; Necrotizing myopathy; Non-sustained ventricular tachycardia PMID: 31952503 DOI:10.1186/s12883-020-1599-5

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J Am Heart Assoc. 2020 Jan 21;9(2):e014004. doi: 10.1161/JAHA.119.014004. Epub 2020 Jan 14. Cardiac Intervention Improves Heart Disease and Clinical Outcomes in Patients With Muscular Dystrophy in a Multidisciplinary Care Setting. Nikhanj A1,2, Yogasundaram H1,2, Miskew Nichols B1,2, Richman-Eisenstat J3, Phan C4, Bakal JA5, Siddiqi ZA4, Oudit GY1,2. 1Division of Cardiology Faculty of Medicine and Dentistry University of Alberta Edmonton Canada. 2Mazankowski Alberta Heart Institute Faculty of Medicine and Dentistry University of Alberta Edmonton Canada. 3Division of Pulmonary Medicine Faculty of Medicine and Dentistry University of Alberta Edmonton Canada. 4Division of Neurology Faculty of Medicine and Dentistry University of Alberta Edmonton Canada. 5Department of Medicine Faculty of Medicine and Dentistry University of Alberta Edmonton Canada. KEYWORDS: heart disease; medical therapy; multidisciplinary care; muscular dystrophy; outcome data PMID: 31931688 DOI:10.1161/JAHA.119.014004

Myographie – Myography Conf Proc IEEE Eng Med Biol Soc. 2019 Jul;2019:3845-3848. doi: 10.1109/EMBC.2019.8856892.

EMG-based Indicators of Muscular Co-Activation during Gait in Children with Duchenne Muscular Dystrophy. Rinaldi M, Petrarca M, Romano A, Vasco G, D'Anna C, Schmid M, Castelli E, Conforto S. PMID: 31946712 DOI:10.1109/EMBC.2019.8856892

Conf Proc IEEE Eng Med Biol Soc. 2019 Jul;2019:1662-1665. doi: 10.1109/EMBC.2019.8857264. Artificial Neural Network to Detect Human Hand Gestures for a Robotic Arm Control. Schabron B, Alashqar Z, Fuhrman N, Jibbe K, Desai J. PMID: 31946215 DOI:10.1109/EMBC.2019.8857264

Conf Proc IEEE Eng Med Biol Soc. 2019 Jul;2019:7165-7168. doi: 10.1109/EMBC.2019.8857463.

Order Frequency Spectral Correlation Based Cyclo-nonstationary Analysis of Surface EMG Signals in Biceps Brachii Muscles. Jero SE, Ramakrishnan S. PMID: 31947487 DOI:10.1109/EMBC.2019.8857463

Conf Proc IEEE Eng Med Biol Soc. 2019 Jul;2019:2238-2241. doi: 10.1109/EMBC.2019.8857067. Assessment of Lumbar Muscles Coordinated Activity Based on High-Density Surface Electromyography: A Pilot Study. Jiang N, Xue J, Li G. PMID: 31946346 DOI:10.1109/EMBC.2019.8857067

Conf Proc IEEE Eng Med Biol Soc. 2019 Jul;2019:6616-6619. doi: 10.1109/EMBC.2019.8857299. The Influence of Force Level and Motor Unit Coherence on Nonlinear Surface EMG Features Examined Using Model Simulation. McManus L, Botelho DP, Flood MW, Lowery MM. PMID: 31947358 DOI:10.1109/EMBC.2019.8857299

Muscle Nerve. 2020 Jan 16. doi: 10.1002/mus.26809. [Epub ahead of print] Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation. Masingue M1, Arzel M2, Sternberg D3,4, Stojkovic T1, Behin A1, Bassez G1, Vicart S3, Péréon Y5, Magot A5, Kuntzer T6, Eymard B1, Fournier E2,7. 1Reference Center for Neuromuscular Diseases Nord-Est-Ile de France, Institute of Myology, CHU Pitié Salpetrière, Assistance Publique Hôpitaux de Paris, Paris, France. 2Department of Neurophysiology, CHU Pitié Salpetrière, Assistance Publique Hôpitaux de Paris, Paris, France. 3National Reference Center for Muscle Channelopathies, Groupe Hospitalier Pitié Salpetrière, Assistance Publique Hôpitaux de Paris, Paris, France.

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4Biochemistry Department, Center of Molecular and Cellular Genetics, Groupe Hospitalier Pitié Salpetrière, Assistance Publique Hôpitaux de Paris, Paris, France. 5Reference Center for Neuromuscular Diseases Atlantique-Occitanie-Caraïbes, CHU Nantes, Nantes, France. 6Department of Neurology, Lausanne University Hospital CHUV, Lausanne, Switzerland. 7Department of Physiology, Sorbonne University, Faculté de médecine Pitié-Salpêtrière, Paris, France. KEYWORDS: ATP2A1; Brody Myopathy; Electric functional analyses; Electroneuromyography; Incremental response; Repetitive Nerve Stimulation PMID: 31944327 DOI:10.1002/mus.26809

Gastroentérologie / Nutrition – Gastroenterology / Nutrition Int J Pediatr Otorhinolaryngol. 2019 Dec 18;130:109818. doi: 10.1016/j.ijporl.2019.109818. [Epub ahead of print]

Trajectory of change in the swallowing status in spinal muscular atrophy type I. Choi YA1, Suh DI2, Chae JH2, Shin HI3. 1Department of Rehabilitation Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Republic of Korea. 2Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. 3Department of Rehabilitation Medicine, Seoul National University Hospital, College of Medicine, Seoul National University, Republic of Korea. Electronic address: hyungik1@snu.ac.kr. KEYWORDS: Aspiration pneumonia; Deglutition; Deglutition disorders; Dysphagia; Gastrostomy; Spinal muscular atrophy; Videofluoroscopic swallowing study PMID: 31945686 DOI:10.1016/j.ijporl.2019.109818

J Neuromuscul Dis. 2020 Jan 2. doi: 10.3233/JND-190435. [Epub ahead of print] Relationship between Eating and Digestive Symptoms and Respiratory Function in Advanced Duchenne Muscular Dystrophy Patients. Lee JW1,2, Oh HJ3, Choi WA3,4, Kim DJ5, Kang SW3,4,2. 1Department of Physical Medicine and Rehabilitation, National Health Insurance Service Ilsan Hospital, Goyang-si, Gyeonggi-do, Korea. 2Yonsei University Graduate School of Medicine, Seoul, Korea. 3Department of Rehabilitation Medicine and Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. 4Pulmonary Rehabilitation Center, Gangnam Severance Hospital. 5Department of Rehabilitation Medicine, SRC Rehabilitation Hospital, Gwangju-si, Gyeonggi-do, Korea. KEYWORDS: Duchenne muscular dystrophy; deglutition disorders; digestive symptoms; respiratory function PMID: 31903995 DOI:10.3233/JND-190435

J Inherit Metab Dis. 2020 Jan 18. doi: 10.1002/jimd.12217. [Epub ahead of print] Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency. Bleeker JC1,2, Visser G1,2, Clarke K3, Ferdinandusse S4, de Haan FH5, Houtkooper RH4, IJlst L4, Kok IL1, Langeveld M6, van der Pol WL7, de Sain-van der Velden MGM1, Sibeijn-Kuiper A8, Takken T9, Wanders RJA2,4, van Weeghel M4,10,11, Wijburg FA2, van der Woude LH12, Wüst RCI4, Cox PJ3, Jeneson JAL8,9,13. 1Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. 2Department of Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. 3Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, United Kingdom. 4Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. 5ACHIEVE, Center for Applied Research, Faculty of Health, University of Applied Sciences Amsterdam, Amsterdam, The Netherlands. 6Department of Endocrinology and metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. 7Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, University Medical Center Utrecht, The Netherlands. 8Neuroimaging Center, Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, Groningen, The Netherlands. 9Center for Child Development & Exercise, Department of Medical Physiology, University Medical Center Utrecht, Utrecht, The Netherlands. 10Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. 11Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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12Human Movement Sciences, University Medical Center Groningen, Groningen, The Netherlands. 13Department of Radiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. KEYWORDS: VLCADD; fatty acid oxidation; in vivo 31P MRS; ketone ester; mitochondrial energy transduction; muscle; nutritional ketosis; very long-chain acyl-CoA dehydrogenase PMID: 31955429 DOI:10.1002/jimd.12217

Imagerie médicale du muscle – Muscle medical imaging Neurol Res. 2020 Jan 17:1-8. doi: 10.1080/01616412.2020.1716494. [Epub ahead of print]

Lower limb muscle magnetic resonance imaging in Chinese patients with myotonic dystrophy type 1. Song J1, Fu J1, Ma M1, Pang M1, Li G1, Gao L2, Zhang J1. 1Department of Neurology, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Henan, China. 2Department of Radiology, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Henan, China. KEYWORDS: Lower limb muscle; chinese patients; magnetic resonance imaging; muscular Impairment Rating Scale; myotonic dystrophy type 1 PMID: 31951783 DOI:10.1080/01616412.2020.1716494

Neurology. 2020 Jan 14. pii: 10.1212/WNL.0000000000008939. [Epub ahead of print] MRI vastus lateralis fat fraction predicts loss of ambulation in Duchenne muscular dystrophy. Naarding KJ1, Reyngoudt H2, van Zwet EW2, Hooijmans MT2, Tian C2, Rybalsky I2, Shellenbarger KC2, Le Louër J2, Wong BL2, Carlier PG2, Kan HE2, Niks EH2. 1From the Department of Neurology (K.J.N., E.H.N.), Department of Biostatistics (E.W.v.Z), and C.J. Gorter Center for High Field MRI (M.T.H., H.E.K.), Department of Radiology, Leiden University Medical Center, Zuid-Holland; Duchenne Center Netherlands (K.J.N., H.E.K., E.H.N.); AIM and CEA NMR Laboratory (H.R., J.L.L., P.G.C.), Neuromuscular Investigation Center, Institute of Myology, Paris, France; and Department of Neurology (C.T., I.R., K.C.S., B.L.W.), Cincinnati Children's Hospital Medical Center, OH. k.j.naarding@lumc.nl. 2From the Department of Neurology (K.J.N., E.H.N.), Department of Biostatistics (E.W.v.Z), and C.J. Gorter Center for High Field MRI (M.T.H., H.E.K.), Department of Radiology, Leiden University Medical Center, Zuid-Holland; Duchenne Center Netherlands (K.J.N., H.E.K., E.H.N.); AIM and CEA NMR Laboratory (H.R., J.L.L., P.G.C.), Neuromuscular Investigation Center, Institute of Myology, Paris, France; and Department of Neurology (C.T., I.R., K.C.S., B.L.W.), Cincinnati Children's Hospital Medical Center, OH. PMID: 31937624 DOI:10.1212/WNL.0000000000008939

Muscle Nerve. 2020 Jan 17. doi: 10.1002/mus.26813. [Epub ahead of print] A Quantitative muscle MRI Study of Patients with Sporadic Inclusion Body Myositis. Behnaz A1,2,3, Emmanuelle SC1,4,5, Augustin O2, Arnaud LT2, Benjamin SM1, Maxime G2, Emilien D1,5, Aude-Marie G1,5, Annie V1,5, David B2, Shahram A1,4,5. 1Centre de référence PACA Réunion Rhône Alpes, La Timone University Hospital, Aix-Marseille University, Marseille. 2Aix-Marseille University, Centre de Résonance Magnétique Biologique et Médicale, UMR CNRS 7339, Marseille, France. 3Isfahan Neurosciences Research Center, Alzahra Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran. 4Aix Marseille University, INSERM, GMGF, Marseille, France. 5FILNEMUS. KEYWORDS: Fat infiltration; IBM; MRI; Quantitative PMID: 31953869 DOI:10.1002/mus.26813

Rheumatology (Oxford). 2020 Jan 10. pii: kez642. doi: 10.1093/rheumatology/kez642. [Epub ahead of print] Myofascia-dominant involvement on whole-body MRI as a risk factor for rapidly progressive interstitial lung disease in dermatomyositis. Karino K1, Kono M1, Kono M1, Sakamoto K2, Fujieda Y1, Kato M1, Amengual O1, Oku K1, Yasuda S1, Atsumi T1. 1Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan. 2Department of Radiation Medicine, Faculty of Medicine, Hokkaido University, Sapporo, Japan. KEYWORDS: dermatomyositis; fasciitis; interstitial lung disease; whole-body MRI PMID: 31925431 DOI:10.1093/rheumatology/kez642

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Médecine physique et de réadaptation – Physical and rehabilitation medicine Eur J Phys Rehabil Med. 2020 Jan 14. doi: 10.23736/S1973-9087.20.05968-7. [Epub ahead of print]

The ICF-CY as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study. Trabacca A1, Lucarelli E2, Pacifico R2, Vespino T2, Di Liddo A2, Losito L2. 1Unit for Severe Disabilities in Developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), Scientific Institute I.R.C.C.S. "E. Medea", Brindisi, Italy - antonio.trabacca@lanostrafamiglia.it. 2Unit for Severe Disabilities in Developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), Scientific Institute I.R.C.C.S. "E. Medea", Brindisi, Italy. PMID: 31939268 DOI:10.23736/S1973-9087.20.05968-7

Clin Pract. 2019 Dec 19;9(4):1209. doi: 10.4081/cp.2019.1209. eCollection 2019 Nov 5. Respiratory treatment in a patient with nemaline myopathy. Polastri M1, Schifino G2, Tonveronachi E3, Tavalazzi F3. 1Department of Continuity of Care and Disability, Physical Medicine and Rehabilitation, St Orsola University Hospital. 2Department of Clinical, Integrated and Experimental Medicine (DIMES), Alma Mater Studiorum University of Bologna. 3Department of Cardiac-Thoracic-Vascular Diseases, Unit of Pneumonology, St Orsola University Hospital, Bologna, Italy. KEYWORDS: Nemaline myopathy; noninvasive ventilation; physiotherapy techniques; respiratory therapy; scoliosis PMID: 31929869 PMCID:PMC6945071 DOI:10.4081/cp.2019.1209

Pediatr Neurol. 2019 Nov 29. pii: S0887-8994(19)30925-7. [Epub ahead of print] Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now? Adaikina A1, Hofman PL2, O'Grady GL3, Gusso S4. 1Liggins Institute, University of Auckland, Auckland, New Zealand. Electronic address: a.adaikina@auckland.ac.nz. 2Liggins Institute, University of Auckland, Auckland, New Zealand. 3Paediatric Neurology Department, Starship Children's Hospital, Auckland, New Zealand. 4Department of Exercise Sciences, University of Auckland, Auckland, New Zealand. KEYWORDS: Aerobic exercises; Congenital myopathy; Neuromuscular disorders; Strength training; Vibration therapy PMID: 31926608 DOI:10.1016/j.pediatrneurol.2019.10.008

Nephrologie – Nephrology Pediatr Nephrol. 2020 Jan 10. doi: 10.1007/s00467-019-04404-6. [Epub ahead of print]

Mitochondrial DNA mutations in renal disease: an overview. Govers LP1, Toka HR2, Hariri A3, Walsh SB1, Bockenhauer D4,5. 1Department of Renal Medicine, University College London, London, UK. 2Manatee Kidney Diseases Consultants, Bradenton, USA. 3Clinical Development, Sanofi Rare Disease, Boston, USA. 4Department of Renal Medicine, University College London, London, UK. d.bockenhauer@ucl.ac.uk. 5Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK. d.bockenhauer@ucl.ac.uk. KEYWORDS: Distal tubulopathies; Mitochondrial DNA; Nephrotic syndrome; Renal Fanconi syndrome; Renal disease; Tubulointerstitial nephritis PMID: 31925537 DOI:10.1007/s00467-019-04404-6

Pneumologie – Pulmonogy Pulm Med. 2019 Dec 26;2019:2734054. doi: 10.1155/2019/2734054. eCollection 2019.

Respiratory Involvement in Patients with Neuromuscular Diseases: A Narrative Review. Voulgaris A1,2, Antoniadou M1,3, Agrafiotis M1,3, Steiropoulos P1,2. 1MSc Program in Sleep Medicine, Medical School, Democritus University of Thrace, Alexandroupolis, Greece. 2Department of Pneumonology, Medical School, Democritus University of Thrace, Alexandroupolis, Greece. 3Department of Pneumonology, General Hospital "G. Papanikolaou", Thessaloniki, Greece. PMID: 31949952 PMCID:PMC6944960 DOI:10.1155/2019/2734054

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BMJ Paediatr Open. 2019 Dec 5;3(1):e000572. doi: 10.1136/bmjpo-2019-000572. eCollection 2019. Healthcare utilisation in children with SMA type 1 treated with nusinersen: a single centre retrospective review. Ali I1, Gilchrist FJ1,2, Carroll WD1,2, Alexander J1, Clayton S1, Kulshrestha R3, Willis T3, Samuels M1. 1Paediatric Respiratory Service, University Hospital of North Midlands NHS Trust, Stoke-on-Trent, UK. 2Institute of Applied Clinical Science, Keele University, Keele, UK. 3Muscle Team, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, UK. KEYWORDS: costing; neurodisability; neuromuscular; respiratory PMID: 31909224 PMCID: PMC6937078 DOI:10.1136/bmjpo-2019-000572

PLoS One. 2020 Jan 10;15(1):e0226980. doi: 10.1371/journal.pone.0226980. eCollection 2020. Diagnostic differences in respiratory breathing patterns and work of breathing indices in children with Duchenne muscular dystrophy. Ryan L1, Rahman T1, Strang A2, Heinle R2, Shaffer TH1,3. 1Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America. 2Division of Pulmonary Medicine, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America. 3Center for Pediatric Lung Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America. PMID: 31923192 DOI:10.1371/journal.pone.0226980

Clin Pract. 2019 Dec 19;9(4):1209. doi: 10.4081/cp.2019.1209. eCollection 2019 Nov 5. Respiratory treatment in a patient with nemaline myopathy. Polastri M1, Schifino G2, Tonveronachi E3, Tavalazzi F3. 1Department of Continuity of Care and Disability, Physical Medicine and Rehabilitation, St Orsola University Hospital. 2Department of Clinical, Integrated and Experimental Medicine (DIMES), Alma Mater Studiorum University of Bologna. 3Department of Cardiac-Thoracic-Vascular Diseases, Unit of Pneumonology, St Orsola University Hospital, Bologna, Italy. KEYWORDS: Nemaline myopathy; noninvasive ventilation; physiotherapy techniques; respiratory therapy; scoliosis PMID: 31929869 PMCID:PMC6945071 DOI:10.4081/cp.2019.1209

Rheumatology (Oxford). 2020 Jan 10. pii: kez642. doi: 10.1093/rheumatology/kez642. [Epub ahead of print] Myofascia-dominant involvement on whole-body MRI as a risk factor for rapidly progressive interstitial lung disease in dermatomyositis. Karino K1, Kono M1, Kono M1, Sakamoto K2, Fujieda Y1, Kato M1, Amengual O1, Oku K1, Yasuda S1, Atsumi T1. 1Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan. 2Department of Radiation Medicine, Faculty of Medicine, Hokkaido University, Sapporo, Japan. KEYWORDS: dermatomyositis; fasciitis; interstitial lung disease; whole-body MRI PMID: 31925431 DOI:10.1093/rheumatology/kez642

Am J Med Genet A. 2020 Jan 18. doi: 10.1002/ajmg.a.61481. [Epub ahead of print] Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy. Yang CF1,2, Niu DM1,2, Tai SK2,3, Wang TH1,2, Su HT4, Huang LY1, Soong WJ1,2,5. 1Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. 2School of Medicine, National Yang-Ming University, Taipei, Taiwan. 3Department of Otolaryngology, Taipei Veterans General Hospital, Taipei, Taiwan. 4Department of Audiology and Speech Language Pathology, Mackay Medical College, Taipei, Taiwan. 5Children's Hospital, China Medical University, Taichung, Taiwan. KEYWORDS: Pompe disease; airway abnormalities; flexible bronchoscopy PMID: 31953985 DOI:10.1002/ajmg.a.61481

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Clin Respir J. 2020 Jan 8. doi: 10.1111/crj.13150. [Epub ahead of print] Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review. Jezela-Stanek A1,2, Chorostowska-Wynimko J1, Tylki-Szymańska A3. 1Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland. 2State Tertiary Vocational School, Oswiecim, Poland. 3Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. KEYWORDS: Fabry disease; Gaucher disease type III; MPS; Niemann-Pick disease type B; enzyme replacement therapy; late-onset Pompe disease; respiratory PMID: 31912638 DOI:10.1111/crj.13150

Pediatr Pulmonol. 2020 Feb;55(2):510-513. doi: 10.1002/ppul.24614. Epub 2020 Jan 7. Effect of mechanical insufflation-exsufflation in children with neuromuscular weakness. Veldhoen ES1, Verweij-van den Oudenrijn LP1, Ros LA2, Hulzebos EH3, Papazova DA2, van der Ent CK4, van der Pol LW5, Nijman J2, Wösten-van Asperen RM2. 1Pediatric Intensive Care Unit and Center of Home Mechanical Ventilation, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. 2Pediatric Intensive Care Unit, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. 3Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. 4Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. 5Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands. KEYWORDS: cough; neuromuscular disease; pediatrics PMID: 31909568 DOI:10.1002/ppul.24614

J Neuromuscul Dis. 2020 Jan 2. doi: 10.3233/JND-190435. [Epub ahead of print] Relationship between Eating and Digestive Symptoms and Respiratory Function in Advanced Duchenne Muscular Dystrophy Patients. Lee JW1,2, Oh HJ3, Choi WA3,4, Kim DJ5, Kang SW3,4,2. 1Department of Physical Medicine and Rehabilitation, National Health Insurance Service Ilsan Hospital, Goyang-si, Gyeonggi-do, Korea. 2Yonsei University Graduate School of Medicine, Seoul, Korea. 3Department of Rehabilitation Medicine and Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. 4Pulmonary Rehabilitation Center, Gangnam Severance Hospital. 5Department of Rehabilitation Medicine, SRC Rehabilitation Hospital, Gwangju-si, Gyeonggi-do, Korea. KEYWORDS: Duchenne muscular dystrophy; deglutition disorders; digestive symptoms; respiratory function PMID: 31903995 DOI:10.3233/JND-190435