Sommaire par maladies / diseases Bibliography of neuromuscular disorders Bibliographie sur les maladies neuromusculaires

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-11-2 du 5 au 18 novembre 2021 (November 5 to 18, 2021)

AFM-Téléthon (Service Documentation) – 23/11/2021 1/71

Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la « Bibliographie Neuromusculaire » contient les dernières références intégrées dans Pubmed. La liste des pathologies concernées par cette bibliographie 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 bibliographies 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, theinformations tool about neuromuscular diseases.

Sommaire par maladies / diseases

COVID-19 et maladies neuromusculaires – COVID-19 and neuromuscular diseases ... 3

Amyotrophies bulbospinales – Bulbospinal amyotrophies ... 4

Amyotrophies spinales – Spinal amyotrophies ... 4

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) ... 4

Canalopathies musculaires – Muscular channelopathies... 8

Dystrophies musculaires congénitales – Congenital muscular dystrophies ... 9

Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies ... 11

Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ... 11

Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ... 17

Dyneinopathies – Dyneinopathies ... 17

Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 18 Dystrophies myotoniques – Myotonic dystrophies ... 19

Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva ... 22

Laminopathies – Laminopathies ... 23

Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ... 23

Myasthénie autoimmune – Myasthenia gravis ... 26

Myopathies congénitales – Congenital myopathies ... 31

Myopathies inflammatoires – Inflammatory myopathies ... 34

Maladie de Pompe – Pompe disease ... 44

Lipidoses musculaires – Lipid myopathies ... 45

Myopathies mitochondriales – Mitochondrial myopathies ... 46

Myotonies congénitales – Congenital myotonia ... 47

Titinopathies – Titinopathies ... 47

Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome ... 47

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) ... 48

Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ... 49

Divers – Miscellaneous ... 55

Sommaire par spécialités / specialties

Cardiologie – Cardiology ... 58

Douleur – Pain ... 61

Électromyographie – Electromyography ... 62

Gastroentérologie / Nutrition – Gastroenterology / Nutrition ... 62

Imagerie médicale – Medical imaging ... 63

Médecine physique et de réadaptation – Physical and rehabilitation medicine ... 66

Nephrologie – Nephrology ... 67

Pneumologie – Pulmonogy ... 68

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

COVID-19 et maladies neuromusculaires – COVID-19 and neuromuscular diseases

1. Pediatr Rheumatol Online J. 2021 Nov 13;19(1):159. doi: 10.1186/s12969-021-00646-7.

Home-based exercise program for adolescents with juvenile dermatomyositis quarantined during COVID-19 pandemic: a mixed methods study

Camilla Astley^{1 2}, Sofia Mendes Sieczkowska^{1 2}, Isabela Gouveia Marques^{1 2}, Bianca Pires Ihara³, Livia Lindoso³, Sofia Simão Martins Lavorato³, Lucia Maria Arruda Campos³, Rosa Maria Rodrigues Pereira², Adriana Maluf Elias³, Nadia Emi Aikawa^{2 3}, Katia Kozu³, Amanda Yuri Iraha^{1 2}, Tathiane Christine Franco^{1 2}, Hamilton Roschel^{1 2}, Ligia Bruni

Queiroz³, Guilherme Vanoni Polanczyk⁴, Clovis Artur Silva^{# 2 3}, Bruno Gualano^{# 5 6 7}

• ¹Applied Physiology and Nutrition Research Group, School of Physical Education and Sport, Universidade de São Paulo, São Paulo, Brazil.

• ²Rheumatology Division, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, HC-FMUSP, Av. Dr. Arnaldo, 455, 3° andar, São Paulo, SP, 01246-903, Brazil.

• ³Instituto da Criança e do Adolescente (ICr), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, HC-FMUSP, São Paulo, Brazil.

• ⁴Department of Psychiatry, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

• ⁵Applied Physiology and Nutrition Research Group, School of Physical Education and Sport, Universidade de São Paulo, São Paulo, Brazil. gualano@usp.br.

• ⁶Rheumatology Division, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, HC-FMUSP, Av. Dr. Arnaldo, 455, 3° andar, São Paulo, SP, 01246-903, Brazil. gualano@usp.br.

• ⁷Food Research Center, Universidade de São Paulo, São Paulo, Brazil. gualano@usp.br.

#Contributed equally.

• PMID: 34774060

• PMCID: PMC8590116

• DOI: 10.1186/s12969-021-00646-7

Keywords: COVID-19; Lifestyle; Myositis; Pediatric rheumatologic diseases; Physical activity; Well-being.

2. Front Genet. 2021 Oct 29;12:735538. doi: 10.3389/fgene.2021.735538. eCollection 2021.

Remote Delivery of Motor Function Assessment and Training for Clinical Trials in Neuromuscular Disease: A Response to the COVID-19 Global Pandemic

Meredith K James¹, Kristy Rose^{2 3}, Lindsay N Alfano^{4 5}, Natalie F Reash⁴, Michelle Eagle⁶, Linda P Lowes^{4 5}

• ¹The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom.

• ²Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.

• ³Sydney Children's Hospitals Network, Sydney, NSW, Australia.

• ⁴Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, United States.

• ⁵Department of Pediatrics, The Ohio State University, Columbus, OH, United States.

• ⁶ATOM International, Newcastle Upon Tyne, United Kingdom.

• PMID: 34790223

• DOI: 10.3389/fgene.2021.735538

Keywords: COVID-19; clinical outcome assessment (COA); clinical trials; natural history; neuromuscular disorders (NMD);

physical therapy; telemedicine.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Amyotrophies bulbospinales – Bulbospinal amyotrophies

3. Clin Chim Acta. 2021 Oct 28;523:402-406. doi: 10.1016/j.cca.2021.10.031. Online ahead of print.

BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene

Ziqiang Liu¹, Qi Peng², Jianwei Li³, Chunbao Rao², Xiaomei Lu⁴

• ¹Child Healthcare Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.

• ²Laboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China; Key Laboratory for Children's Genetics and Infectious Diseases of Dongguan, Dongguan, Guangdong, China.

• ³Department of Neurology, Dongguan Children's Hospital, Dongguan, Guangdong, China.

• ⁴Laboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China; Key Laboratory for Children's Genetics and Infectious Diseases of Dongguan, Dongguan, Guangdong, China. Electronic address:

lxmdgeys@163.com.

• PMID: 34737166

• DOI: 10.1016/j.cca.2021.10.031

Keywords: Brown-Vialetto-van Laere syndrome 2; Genetic testing; SLC52A2.

Amyotrophies spinales – Spinal amyotrophies

Review

4. Neuromuscul Disord. 2021 Oct;31(10):1062-1069. doi: 10.1016/j.nmd.2021.07.399. Epub 2021 Oct 9.

Neurogenic arthrogryposis and the power of phenotyping Alexander M Rossor¹, Mary M Reilly²

• ¹Department of Neuromuscular Disease, Queen Square, UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London WC1N 3BG, England. Electronic address: a.rossor@ucl.ac.uk.

• ²Department of Neuromuscular Disease, Queen Square, UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London WC1N 3BG, England.

• PMID: 34736627

• DOI: 10.1016/j.nmd.2021.07.399

Keywords: Arthrogryposis; BICD2; Dynein; Muscle; SMALED.

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA)

5. Hum Mol Genet. 2021 Nov 15;ddab333. doi: 10.1093/hmg/ddab333. Online ahead of print.

A novel CARM1-HuR axis involved in muscle differentiation and plasticity misregulated in spinal muscular atrophy

Aymeric Ravel-Chapuis^{1 2}, Amir Haghandish^{1 2}, Nasibeh Daneshvar^{1 2}, Bernard J Jasmin^{1 2}, Jocelyn Côté^{1 2}

• ¹Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada K1H 8M5.

• ²Eric Poulin Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada K1H 8M5.

• PMID: 34791230

• DOI: 10.1093/hmg/ddab333

6. Brain. 2021 Nov 11;awab411. doi: 10.1093/brain/awab411. Online ahead of print.

Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophy

Laura E Habets¹, Bart Bartels¹, Fay-Lynn Asselman², Melissa T Hooijmans³, Sandra van den Berg³, Aart J Nederveen³, W Ludo van der Pol², Jeroen A L Jeneson¹

• ¹Centre for Child Development, Exercise and Physical Literacy, Wilhelmina Children's Hospital, University Medical Centre Utrecht, P.O. Box 85090 3508 AB Utrecht, The Netherlands.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ²UMC Utrecht Brain Centre, Department of Neurology and Neurosurgery, University Medical Centre Utrecht Brain Center, Utrecht University, P.O. Box 85500, 3508 GA Utrecht, The Netherlands.

• ³Department of Radiology & Nuclear Medicine, Amsterdam Movement Sciences, Amsterdam University Medical Centre, location AMC, 1105 AZ Amsterdam, The Netherlands.

• PMID: 34788410

• DOI: 10.1093/brain/awab411

Keywords: Magnetic Resonance; Spinal muscular atrophy; exercise; metabolism; muscle.

7. J Physiol. 2021 Nov 15. doi: 10.1113/JP282249. Online ahead of print.

Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen

Didu St Kariyawasam^{1 2}, Arlene M D'Silva², Karen Herbert³, James Howells⁴, Kate Carey², Tejaswi Kandula¹, Michelle A Farrar^{1 2}, Cindy Shin-Yi Lin⁵

• ¹Department of Neurology, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.

• ²School of Women's and Children's Health, University of New South Wales Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.

• ³Department of Physiotherapy, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.

• ⁴Central Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.

• ⁵Translational Research Collective, Faculty of Medicine and Health, Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia.

• PMID: 34783018

• DOI: 10.1113/JP282249

Keywords: axonal excitability; neurobiology; neurodevelopment; nusinersen; spinal muscular atrophy.

8. J Neuromuscul Dis. 2021 Nov 6.

Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated with Nusinersen

Kelly A Rich¹, Ashley Fox¹, Mehmet Yalvac¹, Sarah Heintzman¹, Marco Tellez¹, Amy Bartlett¹, Steven Severyn², Mathew Linsenmayer³, Kristina Kelly¹, Jerry Reynolds¹, Gary Brent Sterling¹, Tristan Weaver², Kiran Rajneesh¹, Megan G Pino¹, W David Arnold¹, Bakri Elsheikh¹, Stephen J Kolb^{1 4}

• ¹Department of Neurology, The Ohio State UniversityWexner Medical Center, Columbus, OH, USA.

• ²Department of Anesthesiology, The Ohio StateUniversity Wexner Medical Center, Columbus, OH, USA.

• ³Assistive Technology Department, The Ohio StateUniversity Wexner Medical Center, Columbus, OH, USA.

• ⁴Department of Biological Chemistry &Pharmacology, The Ohio State University, Columbus, OH, USA.

• PMID: 34776417

• DOI: 10.3233/JND-210735

Keywords: Adult spinal muscular atrophy; aging; biomarker; neurofilament protein.

9. Methods Mol Biol. 2022;2383:491-513. doi: 10.1007/978-1-0716-1752-6_31.

Evaluating Efficacy of Peptide-Delivered Oligonucleotides Using the Severe Taiwanese SMA Mouse Model

Larissa Goli^{# 1 2}, Jessica Stoodley^{# 1}, Suzan M Hammond¹, Richard Raz³

• ¹Department of Paediatrics, University of Oxford, Oxford, UK.

• ²Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.

• ³Department of Paediatrics, University of Oxford, Oxford, UK. Richard.Raz@paediatrics.ox.ac.uk.

#Contributed equally.

• PMID: 34766309

• DOI: 10.1007/978-1-0716-1752-6_31

Keywords: Antisense oligonucleotides; Cell-penetrating peptide; In vivo pup administrations; Peptide oligonucleotide conjugates; Spinal muscular atrophy; Survival motor neuron; Taiwanese SMA mouse model.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

10. Pharmacoeconomics. 2021 Nov 11. doi: 10.1007/s40273-021-01105-7. Online ahead of print.

Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management

Noman Paracha¹, Pollyanna Hudson², Stephen Mitchell², C Simone Sutherland³

• ¹F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124 Building 001/OG13, CH, 4070, Basel, Switzerland.

• ²Mtech Access Limited, Bicester, Oxfordshire, UK.

• ³F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124 Building 001/OG13, CH, 4070, Basel, Switzerland.

simone.sutherland@roche.com.

• PMID: 34761360

• DOI: 10.1007/s40273-021-01105-7

11. Lancet Child Adolesc Health. 2021 Oct 28;S2352-4642(21)00287-X. Online ahead of print.

Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study

Claudia Weiß¹, Andreas Ziegler², Lena-Luise Becker³, Jessika Johannsen⁴, Heiko Brennenstuhl², Gudrun

Schreiber⁵, Marina Flotats-Bastardas⁶, Corinna Stoltenburg¹, Hans Hartmann⁷, Sabine Illsinger⁷, Jonas Denecke⁴, Astrid Pechmann⁸, Wolfgang Müller-Felber⁹, Katharina Vill⁹, Astrid Blaschek⁹, Martin Smitka¹⁰, Lieske van der Stam¹, Katja Weiss¹¹, Benedikt Winter¹², Klaus Goldhahn¹³, Barbara Plecko¹⁴, Veronka Horber¹⁵, Günther Bernert¹⁶, Ralf A

Husain¹⁷, Christian Rauscher¹⁸, Regina Trollmann¹⁹, Sven F Garbade², Andreas Hahn²⁰, Maja von der Hagen¹⁰, Angela M Kaindl²¹

• ¹Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Berlin, Germany.

• ²Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

• ³Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Berlin, Germany; Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

• ⁴Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

• ⁵Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany.

• ⁶Department of Pediatric Neurology, University Hospital Homburg, Homburg, Germany.

• ⁷Hannover Medical School, Clinic for Pediatric Kidney, Liver, and Metabolic Diseases, Hannover, Germany.

• ⁸Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Freiburg, Germany.

• ⁹Department of Paediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Ludwig Maximilian University of Munich, Munich, Germany.

• ¹⁰Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany.

• ¹¹Department of Pediatric Cardiology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

• ¹²Department of Pediatrics, Ulm University, Ulm, Germany.

• ¹³Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Berlin, Germany.

• ¹⁴Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University Graz, Graz, Austria.

• ¹⁵Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.

• ¹⁶Department of Pediatrics, Klinik Favoriten, Vienna, Austria.

• ¹⁷Department of Neuropediatrics, Jena University Hospital, Jena, Germany.

• ¹⁸Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

• ¹⁹Department of Pediatrics, Division of Pediatric Neurology, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.

• ²⁰Department of Child Neurology, University Hospital, Gießen, Germany.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ²¹Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Berlin, Germany; Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Berlin, Germany. Electronic address: angela.kaindl@charite.de.

• PMID: 34756190

• DOI: 10.1016/S2352-4642(21)00287-X

12. J Child Neurol. 2021 Nov 9;8830738211040292. doi: 10.1177/08830738211040292. Online ahead of print.

Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening

Stella Deng¹, Bo Hoon Lee¹, Emma Ciafaloni¹

• ¹Department of Neurology, University of Rochester, Rochester, NY, USA.

• PMID: 34753336

• DOI: 10.1177/08830738211040292

Keywords: genetics; infant; neonate; outcome; treatment.

13. Br J Clin Pharmacol. 2021 Nov 8. doi: 10.1111/bcp.15125. Online ahead of print.

Challenging times: Delivering gene therapies and an opportunity for shared learning Cormac Kennedy^{1 2}, Edel O'Dea², Derval Reidy², Jeremy Towns², Maria Pigott², David Kevans^{2 3}, Declan O'Rourke⁴, Martina Hennessy^{1 2}

• ¹Department of Pharmacology and Therapeutics, Health Sciences Centre, Trinity College, Dublin, Ireland.

• ²Wellcome-HRB Clinical Research Facility, St James Hospital, Dublin, Ireland.

• ³Department of Gastroenterology, St James Hospital, Dublin, Ireland.

• ⁴Department of Neurology, Children's Health Ireland at Temple Street, Dublin, Ireland.

• PMID: 34750854

• DOI: 10.1111/bcp.15125

Keywords: Zolgensma®; drug delivery; gene therapy; spinal muscle atrophy.

Review

14. Orthop Rev (Pavia). 2021 Jul 12;13(2):25579. doi: 10.52965/001c.25579. eCollection 2021.

Risdiplam for the Use of Spinal Muscular Atrophy

Juyeon Kakazu¹, Nakoma L Walker², Katherine Claire Babin², Katherine A Trettin², Christopher Lee³, Patricia B Sutker⁴, Adam M Kaye⁵, Alan D Kaye⁶

• ¹Georgetown University School of Medicine, Washington DC.

• ²Louisiana State University Health Sciences Center, Shreveport, LA.

• ³Creighton University School of Medicine-Phoenix Regional Campus, Phoenix, AZ.

• ⁴Louisiana State University Health Sciences Center New Orleans, LA.

• ⁵Thomas J. Long School of Pharmacy and Health Sciences, University of the Pacific, Stockton, CA.

• ⁶Louisiana State University Health Sciences Center, Department of Anesthesiology, New Orleans, LA; Provost, Chief Academic Officer, Vice-Chancellor of Academic Affairs, Professor, Departments of Anesthesiology and Pharmacology, Toxicology, and Neurosciences, LSU Health Shreveport.

• PMID: 34745484

• DOI: 10.52965/001c.25579

Keywords: evrysdi; nusinersen; risdiplam; sma; spinal muscular atrophy.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Review

15. Orthop Rev (Pavia). 2021 Jun 19;13(2):24934. doi: 10.52965/001c.24934. eCollection 2021.

The Antisense Oligonucleotide Nusinersen for Treatment of Spinal Muscular Atrophy

Amber N Edinoff¹, Long H Nguyen¹, Amira S Odisho¹, Benjamin S Maxey¹, John W Pruitt¹, Brook Girma¹, Elyse M Cornett¹, Adam M Kaye², Alan D Kaye¹

• ¹Louisiana State University Health Science Center Shreveport.

• ²Thomas J. Long School of Pharmacy and Health Sciences, University of the Pacific.

• PMID: 34745470

• DOI: 10.52965/001c.24934

Keywords: antisense oligonucleotide; nusinersen; smn1; spinal muscular atrophy.

16. Front Neurorobot. 2021 Oct 21;15:750385. doi: 10.3389/fnbot.2021.750385. eCollection 2021.

Wearable Robots: An Original Mechatronic Design of a Hand Exoskeleton for Assistive and Rehabilitative Purposes

Nicola Secciani¹, Chiara Brogi¹, Marco Pagliai¹, Francesco Buonamici¹, Filippo Gerli², Federica Vannetti², Massimo Bianchini³, Yary Volpe¹, Alessandro Ridolfi¹

• ¹Department of Industrial Engineering, University of Florence, Firenze, Italy.

• ²IRCCS Don Gnocchi, Don Carlo Gnocchi Foundation, Firenze, Italy.

• ³Institute for Complex Systems, National Research Council, Sesto Fiorentino, Italy.

• PMID: 34744679

• DOI: 10.3389/fnbot.2021.750385

Keywords: hand exoskeleton; home assistance; mechatronics design; robotics; telerehabilitation; wearable robot.

Review

17. Neuromuscul Disord. 2021 Oct;31(10):998-1003. doi: 10.1016/j.nmd.2021.08.009.

Spinal muscular atrophy: from rags to riches Eugenio Mercuri¹

• ¹Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome 00168, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Electronic address:

eugeniomaria.mercuri@unicatt.it.

• PMID: 34736637

• DOI: 10.1016/j.nmd.2021.08.009

Canalopathies musculaires – Muscular channelopathies

Case Reports

Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family

Jie-Yuan Jin^{1 2}, Bing-Bing Guo^{1 2 3}, Yi Dong¹, Yue Sheng¹, Liang-Liang Fan^{1 2 4}, Li-Bing Zhang⁵

• ¹School of Life Sciences, Central South University, Changsha, China.

• ²Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, China.

• ³CAS Key Laboratory of Infection and Immunity, Institute of Biophysics, Chinese Academy of Sciences, Beijing, China.

• ⁴Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.

• ⁵Department of Pediatrics, Affiliated Hospital of Yangzhou University, Yangzhou, China.

• PMID: 34777470

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• DOI: 10.3389/fgene.2021.743184

Keywords: CACNA1S; calcium channels; frameshift mutation; hypokalaemic periodic paralysis; targeted sequencing.

19. J Gen Physiol. 2022 Sep 5;154(9):e2021ecc40. doi: 10.1085/jgp.2021ecc40. Epub 2021 Nov 12.

CaV1.1 defects in hypokalemic periodic paralysis and harnessing multiple approaches for therapeutic intervention

Fenfen Wu¹, Marbella Quiñonez¹, Marino Difranco¹, Stephen Cannon¹

• ¹Department of Physiology, David Geffen School of Medicine at UCLA, Los Angeles, CA.

• PMID: 34767012

• DOI: 10.1085/jgp.2021ecc40

20. J Nephrol. 2021 Nov 8. doi: 10.1007/s40620-021-01184-x. Online ahead of print.

Distal renal tubular acidosis and hypokalaemic periodic paralysis during pregnancy Nivedita Jha¹, Molly Mary Thabah², M B Divya¹, N S Kubera¹, Ajay Kumar Jha³

• ¹Department of Obstetrics and Gynaecology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

• ²Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

• ³Department of Anaesthesiology and Critical Care, Jawaharlal Institute of Medical Education and Research, Pondicherry, India. drajaykjha@rediffmail.com.

• PMID: 34748193

• DOI: 10.1007/s40620-021-01184-x

Keywords: Distal renal tubular acidosis; Hypokalaemia; Periodic paralysis; Potassium chloride; Pregnancy.

21. Eur J Med Genet. 2021 Nov 5;65(1):104382. doi: 10.1016/j.ejmg.2021.104382. Online ahead of print.

Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?

A S van der Werf-'t Lam¹, A van Haeringen², T Rinnen³, R M Robles de Medina⁴, A A M Wilde⁵, R C Hennekam⁶, D Q C M Barge-Schaapveld²

• ¹Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands. Electronic address:

asvanderwerf-tlam@lumc.nl.

• ²Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.

• ³Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.

• ⁴Department of Cardiology, Haga Teaching Hospital, The Hague, the Netherlands.

• ⁵Department of Cardiology, Amsterdam University Medical Centre, Amsterdam, the Netherlands.

• ⁶Department of Paediatrics, Amsterdam University Medical Centre, Amsterdam, the Netherlands.

• PMID: 34748995

• DOI: 10.1016/j.ejmg.2021.104382

Keywords: - Andersen Tawil syndrome; KCNJ2; Noonan syndrome; RAS/MAPK pathway.

Dystrophies musculaires congénitales – Congenital muscular dystrophies

Case Reports

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy P A Chausova¹, O P Ryzhkova¹, G E Rudenskaya¹, V B Chernykh¹, O A Shchagina¹, A V Polyakov¹

• ¹Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of the Russian Federation, Moscow, Russia.

• PMID: 34777456

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• DOI: 10.3389/fgene.2021.686800

Keywords: LAMA2; MPS; congenital muscular dystrophy; merosine; merosine deficient congenital muscular dystrophy;

molecular diagnostics; mosaicism.

23. EMBO Mol Med. 2021 Nov 15;e13787. doi: 10.15252/emmm.202013787. Online ahead of print.

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy Sandra Donkervoort¹, Niklas Krause², Mykola Dergai³, Pomi Yun¹, Judith Koliwer², Svetlana Gorokhova^{1 4 5}, Janelle Geist Hauserman¹, Beryl B Cummings⁶, Ying Hu¹, Rosemarie Smith⁷, Prech Uapinyoying^{1 8}, Vijay S Ganesh^{6 9}, Partha S Ghosh¹⁰, Kristin G Monaghan¹¹, Seby L Edassery¹², Pia E Ferle², Sarah Silverstein^{1 13 14}, Katherine R Chao⁶, Molly Snyder¹⁵, Sara Ellingwood⁷, Diana Bharucha-Goebel^{1 16}, Susan T Iannaccone¹⁷, Matteo Dal Peraro¹⁸, A Reghan Foley¹, Jeffrey N Savas¹², Véronique Bolduc¹, Dirk Fasshauer³, Carsten G Bönnemann¹, Michael Schwake^{2 12}

• ¹Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

• ²Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.

• ³Department of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland.

• ⁴Service de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France.

• ⁵INSERM, U1251-MMG, Aix-Marseille Université, Marseille, France.

• ⁶Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

• ⁷Maine Medical Center, Portland, ME, USA.

• ⁸Research for Genetic Medicine, Children's National Medical Center, Washington, DC, USA.

• ⁹Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA.

• ¹⁰Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

• ¹¹GeneDx, Gaithersburg, MD, USA.

• ¹²Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

• ¹³Rutgers New Jersey School of Medicine, Newark, NJ, USA.

• ¹⁴Undiagnosed Diseases Program, National Human Genome Research Institute, National Institute of Health, Bethesda, MD, USA.

• ¹⁵Department of Neurology, Children's Health, Dallas, TX, USA.

• ¹⁶Division of Neurology, Children's National Medical Center, Washington, DC, USA.

• ¹⁷Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.

• ¹⁸Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.

• PMID: 34779586

• DOI: 10.15252/emmm.202013787

Keywords: BET1; GOSR2; SNARE; epilepsy; muscular dystrophy.

Reduced plasticity and microtubule densification in muscular dystrophy-related cardiomyopathy Yuki Katanosaka¹

• ¹Department of Cardiovascular Physiology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.

• PMID: 34767017

• DOI: 10.1085/jgp.2021ecc45

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies

25. Kardiol Pol. 2021 Nov 16. doi: 10.33963/KP.a2021.0159. Online ahead of print.

Predictors of mortality and cardiovascular outcomes in Emery-Dreifuss Muscular Dystrophy in a long- term follow-up

Michał Marchel¹, Agnieszka Madej-Pilarczyk², Roman Steckiewicz³, Przemysław Stolarz³, Michał Peller³, Agata Tymińska³, Ewa Ostrowska³, Krzysztof Ozierański³, Paweł Balsam³, Marcin Grabowski³, Grzegorz Opolski³

• ¹1st Chair and Department of Cardiology, Medical University of Warsaw, Warszawa, Poland.

michal.marchel@wum.edu.pl.

• ²Department of Medical Genetics, The Children's Memorial Health Institute, Warszawa, Poland.

• ³1st Chair and Department of Cardiology, Medical University of Warsaw, Warszawa, Poland.

• PMID: 34783354

• DOI: 10.33963/KP.a2021.0159

Keywords: EMD; LMNA; cardiomyopathy; heart failure; laminopathy.

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

26. J Comp Eff Res. 2021 Nov 18. doi: 10.2217/cer-2021-0196. Online ahead of print.

Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients

Craig M McDonald¹, Francesco Muntoni^{2 3}, Vinay Penematsa⁴, Joel Jiang⁴, Allan Kristensen⁴, Francesco

Bibbiani⁴, Elizabeth Goodwin⁴, Heather Gordish-Dressman⁵, Lauren Morgenroth⁶, Christian Werner⁷, James Li⁴, Richard Able⁴, Panayiota Trifillis⁴, Már Tulinius⁸, Study 019 investigators

• ¹Department of Pediatrics, University of California Davis School of Medicine, Davis, CA, USA.

• ²Dubowitz Neuromuscular Centre & MRC Centre for Neuromuscular Diseases, University College London, Institute of Child Health & Great Ormond Street Hospital for Children Foundation Trust, London, UK.

• ³NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, Great Ormond Street Hospital Trust, London, UK.

• ⁴PTC Therapeutics, South Plainfield, NJ, USA.

• ⁵Center for Genetic Medicine, Children's National Health System & the George Washington, Washington, DC, USA.

• ⁶Therapeutic Research in Neuromuscular Disorders Solutions, Pittsburgh, PA, USA.

• ⁷PTC Therapeutics Germany GmbH, Frankfurt, Germany.

• ⁸Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden.

• PMID: 34791888

• DOI: 10.2217/cer-2021-0196

Keywords: Study 019; ataluren; dystrophin; efficacy; loss of ambulation; nonsense mutation Duchenne muscular dystrophy;

respiratory function.

27. Front Pharmacol. 2021 Nov 1;12:735912. doi: 10.3389/fphar.2021.735912. eCollection 2021.

Lessons Learned from Discontinued Clinical Developments in Duchenne Muscular Dystrophy Theodora Markati¹, Liesbeth De Waele^{2 3}, Urlike Schara-Schmidt⁴, Laurent Servais^{1 5}

• ¹MDUK Oxford Neuromuscular Center, Department of Paediatrics, University of Oxford, Oxford, United Kingdom.

• ²KU Leuven Department of Development and Regeneration, Leuven, Belgium.

• ³Department of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium.

• ⁴Department of Pediatric Neurology, Center for Neuromuscular Diseases, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.

• ⁵Division of Child Neurology, Reference Center for Neuromuscular Disease, Centre Hospitalier Régional de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège, Liège, Belgium.

• PMID: 34790118

• DOI: 10.3389/fphar.2021.735912

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Keywords: antisense oligonucleotides; clinical trials; duchenne muscular dystrophy; dystrophin; exon skipping; myostatin inhibition; randomized controlled clinical trials; utrophin upregulation.

28. Nucleic Acid Ther. 2021 Nov 17. doi: 10.1089/nat.2021.0043. Online ahead of print.

Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial

Laurent Servais^{1 2 3}, Eugenio Mercuri^{4 5}, Volker Straub⁶, Michela Guglieri⁶, Andreea M Seferian¹, Mariacristina Scoto^{7 8}, Daniela Leone⁵, Erica Koenig⁹, Navid Khan⁹, Ashish Dugar⁹, Xiaodong Wang⁹, Baoguang Han⁹, Dan Wang⁹, Francesco Muntoni^{7 8}, SKIP-NMD Study Group

• ¹I-Motion Institute, Hôpital Armand Trousseau, Paris, France.

• ²Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège & University of Liège, Liège, Belgium.

• ³MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, United Kingdom.

• ⁴Pediatric Neurology Unit, Università Cattolica del Sacro Cuore Roma, Rome, Italy.

• ⁵Nemo Clinical Centre, Fondazione Policlinico Universitario A Gemelli IRCCS, Rome, Italy.

• ⁶John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.

• ⁷Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health, London, United Kingdom.

• ⁸National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.

• ⁹Sarepta Therapeutics, Inc., Cambridge, Massachusetts, USA.

• PMID: 34788571

• DOI: 10.1089/nat.2021.0043

Keywords: Duchenne muscular dystrophy; exon skipping; golodirsen.

29. Muscle Nerve. 2021 Nov 17. doi: 10.1002/mus.27464. Online ahead of print.

A Population-based Study of Scoliosis among Males Diagnosed with a Dystrophinopathy Identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

Kristin M Conway¹, Amber Gedlinske², Katherine D Mathews³, Seth Perlman⁴, Nicholas Johnson⁵, Russell Butterfield⁶, Man Hung⁷, Jerry Bounsanga⁸, Dennis Matthews⁹, Joyce Oleszek⁹, Paul A Romitti¹

• ¹Department of Epidemiology, The University of Iowa, Iowa City, IA.

• ²Department of Internal Medicine, The University of Iowa, Iowa City, IA.

• ³Departments of Pediatrics and Neurology, The University of Iowa, Iowa City, IA.

• ⁴Department of Neurology, Seattle Children's Hospital, Seattle, WA.

• ⁵Department of Neurology, Virginia Commonwealth University, Richmond, VA.

• ⁶Departments of Pediatrics and Neurology, University of Utah, Salt Lake City, UT.

• ⁷College of Dental Medicine, Roseman University of Health Sciences, South Jordan, UT.

• ⁸Utah Medical Education Council, Salt Lake City, UT.

• ⁹Department of Physical Medicine and Rehabilitation, University of Colorado and Children's Hospital, Denver, CO.

• PMID: 34787322

• DOI: 10.1002/mus.27464

Keywords: Duchenne muscular dystrophy; corticosteroid; dystrophinopathy; scoliosis.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Case Reports

30. Brain Dev. 2021 Nov 12;S0387-7604(21)00204-7. doi: 10.1016/j.braindev.2021.10.010. Online ahead of print.

A case of delayed diagnosis of Becker muscular dystrophy due to underlying developmental disorders Shinji Oda¹, Madoka Mori-Yoshimura², Yasushi Oya¹, Noriko Sato³, Ichizo Nishino⁴, Yuji Takahashi¹

• ¹Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.

• ²Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.

Electronic address: yoshimur@ncnp.go.jp.

• ³Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.

• ⁴Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan; Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Japan.

• PMID: 34782199

• DOI: 10.1016/j.braindev.2021.10.010

Keywords: Autism spectrum disorder; Becker muscular dystrophy (BMD); Cardiomyopathy; Cerebral infarction;

Developmental disorder; Mental retardation; Social withdrawal.

31. FASEB J. 2021 Dec;35(12):e22034. doi: 10.1096/fj.202101163RR.

Sensitivity to behavioral stress impacts disease pathogenesis in dystrophin-deficient mice Angus Lindsay¹, Adam J Trewin¹, Kate J Sadler¹, Claire Laird², Paul A Della Gatta¹, Aaron P Russell¹

• ¹Institute for Physical Activity and Nutrition, School of Exercise and Nutrition Sciences, Deakin University, Geelong, Victoria, Australia.

• ²Researcher Development, Deakin Research, Deakin University, Geelong, Victoria, Australia.

• PMID: 34780665

• DOI: 10.1096/fj.202101163RR

Keywords: blood pressure; dystrophin; estrogen; hypothalamic pituitary adrenal axis; skeletal muscle.

32. Eur J Neurol. 2021 Nov 15. doi: 10.1111/ene.15184. Online ahead of print.

Pro-inflammatory monocytes are increased in Duchenne muscular dystrophy and suppressed with omega-3 fatty acids: A double-blind, randomized, placebo-controlled pilot study

Marco A Villaldama-Soriano¹, Maricela Rodríguez-Cruz¹, Sthephanie Y Hernández-De la Cruz¹, Tomás Almeida- Becerril¹, Alan Cárdenas-Conejo², Carlos Wong-Baeza³

• ¹Laboratorio de Nutrición Molecular, Unidad de Investigación Médica en Nutrición, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social (IMSS), Ciudad de México (CDMX), México.

• ²The Departamento de Genética Médica. Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, CDMX, México.

• ³Laboratorio de Biomembranas, Departamento de Bioquímica. Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional. CDMX, Mexico.

• PMID: 34779542

• DOI: 10.1111/ene.15184

Keywords: Cytokines; Duchenne muscular dystrophy; Inflammation; Monocytes; Omega-3 Long Chain PolyUnsaturated Fatty Acids.

33. J Neuromuscul Dis. 2021 Nov 6. doi: 10.3233/JND-210739. Online ahead of print.

Differentiation of Pediatric-Onset Duchenne and Becker Muscular Dystrophy Subphenotypes Using the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet)

Jennifer G Andrews¹, Molly Lamb², Kristin Conway³, Natalie Street⁴, Christina Westfield⁵, Emma Ciafaloni⁶, Dennis Matthews⁷, Shree Pandya⁸, MD STARnet

• ¹Department of Pediatrics, University of Arizona, AZ, Tucson.

• ²Department of Epidemiology, ColoradoSchool of Public Health, University of Colorado, Aurora.

• ³Department of Epidemiology, The University ofIowa, Iowa City.

• ⁴National Center on Birth Defectsand Developmental Disabilities, Centers for Disease Control andPrevention, Atlanta.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ⁵Department of Health, NewYork.

• ⁶Department of Neurology, School of Medicineand Dentistry, University of Rochester Medical Center, Rocheste.

• ⁷Physical Medicine and Rehabilitation, School ofMedicine, University of Colorado, Aurora.

• ⁸Department of Neurology, School of Medicine andDentistry, University of Rochester Medical.

• PMID: 34776418

• DOI: 10.3233/JND-210739

Keywords: Duchenne; MD STARnet; becker; cluster analysis; dystrophinopathy; phenotype; subphenotype.

34. Glia. 2021 Nov 13. doi: 10.1002/glia.24116. Online ahead of print.

Dystrophin deficiency affects human astrocyte properties andresponse to damage Jenny Lange¹, Olivia Gillham¹, Reem Alkharji¹, Simon Eaton¹, Giulia Ferrari², Monika Madej³, Michael Flower⁴, Francesco Saverio Tedesco^{2 5}, Francesco Muntoni^{5 6}, Patrizia Ferretti¹

• ¹Department of Developmental Biology and Cancer, Stem Cells and Regenerative Medicine Section, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

• ²Department of Cell and Developmental Biology, University College London, London, UK.

• ³Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

• ⁴UCL Queen Square Institute of Neurology, University College London, London, UK.

• ⁵Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

• ⁶NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK.

• PMID: 34773297

• DOI: 10.1002/glia.24116

Keywords: 3-dimensional culture; Duchenne muscular dystrophy; astrocyte; brain; development; dystrophin; human;

induced pluripotent stem cells; neural damage.

Effects of HOCl oxidation on excitation-contraction coupling: Implications for the pathophysiology of Duchenne muscular dystrophy

Thomas A Lea¹, Gavin J Pinniger¹, Peter G Arthur², Tony J Bakker¹

• ¹School of Human Sciences, University of Western Australia, Perth, Australia.

• ²School of Molecular Sciences, University of Western Australia, Perth, Australia.

• PMID: 34766988

• DOI: 10.1085/jgp.2021ecc16

36. Front Physiol. 2021 Oct 26;12:757121. doi: 10.3389/fphys.2021.757121. eCollection 2021.

Contraction-Induced Loss of Plasmalemmal Electrophysiological Function Is Dependent on the Dystrophin Glycoprotein Complex

Cory W Baumann^{1 2}, Angus Lindsay^{2 3}, Sylvia R Sidky², James M Ervasti⁴, Gordon L Warren⁵, Dawn A Lowe²

• ¹Department of Biomedical Sciences, Ohio Musculoskeletal and Neurological Institute (OMNI), Ohio University, Athens, OH, United States.

• ²Divisions of Rehabilitation Science and Physical Therapy, Department of Rehabilitation Medicine, University of Minnesota, Minneapolis, MN, United States.

• ³School of Exercise and Nutrition Sciences, Institute for Physical Activity and Nutrition, Deakin University, Geelong, VIC, Australia.

• ⁴Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, MN, United States.

• ⁵Department of Physical Therapy, Georgia State University, Atlanta, GA, United States.

• PMID: 34764884

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• DOI: 10.3389/fphys.2021.757121

Keywords: eccentric contractions; electromyography; injury; muscular dystrophy; strength.

Case Reports

37. BMJ Case Rep. 2021 Nov 11;14(11):e244745. doi: 10.1136/bcr-2021-244745.

Non-compaction cardiomyopathy, Becker muscular dystrophy, neuropathy and recurrent syncope Love Shah¹, Ingrid Tam², Shravan Nosib³

• ¹Internal Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.

• ²Pathology and Lab Medicine, University of Saskatchewan College of Medicine, Saskatoon, Saskatchewan, Canada.

• ³Cardiology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada shravan.nosib@gmail.com.

• PMID: 34764091

• PMCID: PMC8587471 (available on 2023-11-11)

• DOI: 10.1136/bcr-2021-244745

Keywords: arrhythmias; cardiovascular medicine; cardiovascular system; heart failure; neurology.

38. Hum Mol Genet. 2021 Nov 11;ddab326. doi: 10.1093/hmg/ddab326. Online ahead of print.

Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching

Leonit Kiriaev¹, Peter J Houweling^{2 3}, Kathryn N North^{2 3}, Stewart I Head^{1 2}

• ¹School of Medicine, Western Sydney University, Sydney, NSW, Australia.

• ²Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

• ³Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

• PMID: 34761268

• DOI: 10.1093/hmg/ddab326

39. Pediatr Int. 2021 Nov 10. doi: 10.1111/ped.14754. Online ahead of print.

A high-risk alveolar rhabdomyosarcoma case with Duchenne muscular dystrophy Keisuke Okuno¹, Daisuke Kawaba², Atsushi Maejima¹, Sosuke Kakee¹, Noriyuki Namba¹

• ¹Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Yonago, Japan.

• ²Department of Pediatrics, Tsuyama Chuo Hospital, Tsuyama, Japan.

• PMID: 34757683

• DOI: 10.1111/ped.14754

Keywords: Duchenne muscular dystrophy; alveolar rhabdomyosarcoma; multidisciplinary conference; prognosis-conscious treatment; willingness of the patient's family.

40. Am J Cardiol. 2021 Oct 29;S0002-9149(21)00936-X. doi: 10.1016/j.amjcard.2021.09.016. Online ahead of print.

Value of Global Longitudinal Strain for Identification and Monitoring of Left Ventricular Dysfunction in Becker Muscular Dystrophy

Nienke M van de Velde¹, Tea Gegenava², Zaïda Koeks³, Steele C Butcher², Arno Aw Roest⁴, Jeroen J Bax², Douwe E Atsma², Pietro Spitali⁵, Nina Ajmone Marsan², Erik H Niks⁶

• ¹Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands; Duchenne Center Netherlands.

• ²Department of Cardiology, Heart Lung Center, Leiden University Medical Center, Leiden, The Netherlands.

• ³Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

• ⁴Division of Paediatric Cardiology, Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ⁵Duchenne Center Netherlands; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

• ⁶Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands; Duchenne Center Netherlands. Electronic address: e.h.niks@lumc.nl.

• PMID: 34756724

• DOI: 10.1016/j.amjcard.2021.09.016

Review

41. Cochrane Database Syst Rev. 2021 Nov 8;11(11):CD013720. doi: 10.1002/14651858.CD013720.pub2.

Antioxidants to prevent respiratory decline in people with Duchenne muscular dystrophy and progressive respiratory decline

Luis Garegnani¹, Martin Hyland², Pablo Roson Rodriguez³, Camila Micaela E Escobar Liquitay⁴, Juan Va Franco¹

• ¹Associate Cochrane Centre, Instituto Universitario Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.

• ²Paediatric Neurology Division - Paediatrics Department, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.

• ³Research Department, Instituto Universitario Hospital Italiano, Buenos Aires, Argentina.

• ⁴Central Library, Instituto Universitario Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.

• PMID: 34748221

• PMCID: PMC8574769 (available on 2022-11-08)

• DOI: 10.1002/14651858.CD013720.pub2

Case Reports

42. Pediatr Endocrinol Diabetes Metab. 2021;27(3):227-231. doi: 10.5114/pedm.2021.109681.

Complex glycerol kinase deficiency - long-term follow-up of two patients

Beata Wikiera¹, Aleksandra Jakubiak², Izabela Łaczmanska³, Anna Noczyńska¹, Robert Śmigiel²

• ¹Department of Endocrinology and Diabetology for Children and Adolescents, Wroclaw Medical University, Poland.

• ²Department of Paediatric, Division of Propaedeutic of Paediatrics and Rare Disorders, Wroclaw Medical University, Poland.

• ³Department of Genetics, Wroclaw Medical University, Poland.

• PMID: 34743506

• DOI: 10.5114/pedm.2021.109681 in English, Polish

Keywords: congenital adrenal hypoplasia; muscular dystrophy.; glycerol kinase deficiency.

43. Gene Ther. 2021 Nov 5. doi: 10.1038/s41434-021-00300-7. Online ahead of print.

Dystrophin and mini-dystrophin quantification by mass spectrometry in skeletal muscle for gene therapy development in Duchenne muscular dystrophy

Vahid Farrokhi¹, Jason Walsh¹, Joe Palandra¹, Joanne Brodfuehrer², Teresa Caiazzo¹, Jane Owens³, Michael Binks³, Srividya Neelakantan⁴, Florence Yong⁵, Pinky Dua⁶, Caroline Le Guiner⁷, Hendrik Neubert⁸

• ¹Biomedicine Design, Worldwide Research & Development, Pfizer Inc, 1 Burtt Road, Andover, MA, 01810, USA.

• ²Biomedicine Design, Worldwide Research & Development, Pfizer Inc, 610 Main Street, Cambridge, MA, 02139, USA.

• ³Rare Disease Research Unit, Pfizer Worldwide Research & Development, 610 Main Street, Cambridge, MA, 02139, USA.

• ⁴Clinical Pharmacology, Early Clinical Development, Worldwide Research & Development, Pfizer Inc, 1 Portland St, Cambridge, MA, 02139, USA.

• ⁵Biostatistics, Worldwide Research & Development, Pfizer Inc, Cambridge, MA, 02139, USA.

• ⁶Early Clinical Development, Clinical Pharmacology, Pfizer R&D UK Limited, Cambridge, UK.

• ⁷Translational Gene Therapy Laboratory, University of Nantes, INSERM UMR1089, CHU de Nantes, IRS 2 Nantes Biotech, 22 Boulevard Benoni Goulin, 44200, Nantes, France.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ⁸Biomedicine Design, Worldwide Research & Development, Pfizer Inc, 1 Burtt Road, Andover, MA, 01810, USA.

Hendrik.Neubert@pfizer.com.

• PMID: 34737451

• DOI: 10.1038/s41434-021-00300-7

Review

44. Neuromuscul Disord. 2021 Oct;31(10):1013-1020. doi: 10.1016/j.nmd.2021.08.004.

The DMD gene and therapeutic approaches to restore dystrophin Fernanda Fortunato¹, Marianna Farnè¹, Alessandra Ferlini²

• ¹Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

• ²Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy; Dubowitz Neuromuscular Unit, Institute of Child Health, University College of London, London, UK. Electronic address:

fla@unife.it.

• PMID: 34736624

• DOI: 10.1016/j.nmd.2021.08.004

Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies

45. Disabil Rehabil. 2021 Nov 15;1-9. doi: 10.1080/09638288.2021.1998669. Online ahead of print.

Prevalence of chronic pain in a national cohort of patients with limb-girdle muscular dystrophy: a cross-sectional study

Rikke Nicoline Stokholm^{1 2}, Charlotte Handberg^{1 3}, Lone F Knudsen³

• ¹Department of Public Health, Aarhus University, Aarhus C, Denmark.

• ²University Research Clinic for Cancer Screening, Department of Public Health Programmes, Randers Regional Hospital, Randers NO, Denmark.

• ³National Rehabilitation Center for Neuromuscular Diseases, Aarhus C, Denmark.

• PMID: 34780317

• DOI: 10.1080/09638288.2021.1998669

Keywords: Limb-girdle muscular dystrophy; functioning; pain prevalence; predictors; psychological distress; quality of life;

rehabilitation.

Dyneinopathies – Dyneinopathies

Case Reports

46. World J Clin Cases. 2021 Oct 26;9(30):9302-9309. doi: 10.12998/wjcc.v9.i30.9302.

Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report

Feng-Juan Ding¹, Gui-Zhen Lyu², Victor Wei Zhang², Hua Jin³

• ¹Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China.

• ²AmCare Genomics lab (Guangzhou), Guangzhou 510300, Guangdong Province, China.

• ³Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China.

tonyshirly@163.com.

• PMID: 34786417

• DOI: 10.12998/wjcc.v9.i30.9302

Keywords: Case report; DYNC1H1; Medical exome sequencing; Mental retardation; Muscle weakness.