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° 2021-11-1 du 22 octobre au 4 novembre 2021 (October 22 to november 4, 2021)

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 ... 5

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) ... 5

Amyotrophie spinale avec détresse respiratoire type 1 (SMARD1) – Spinal muscular atrophy with respiratory distress type 1 ... 8

Canalopathies musculaires – Muscular channelopathies... 9

Collagénopathies – Collagenopathies... 9

Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ... 10

Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ... 19

Dystrophies musculaires liées à LAMA2 – LAMA2 related muscular dystrophies ... 20

Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 20 Dystrophies myotoniques – Myotonic dystrophies ... 21

Laminopathies – Laminopathies ... 22

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

Myasthénie autoimmune – Myasthenia gravis ... 26

Myopathies congénitales – Congenital myopathies ... 30

Myopathies distales – Distal myopathies ... 31

Myopathies liées à GNE – GNE myopathies ... 31

Myopathies inflammatoires – Inflammatory myopathies ... 32

Maladie de Pompe – Pompe disease ... 38

Myopathies métaboliques – Metabolic myopathies ... 40

Lipidoses musculaires – Lipid myopathies ... 40

Myopathies mitochondriales – Mitochondrial myopathies ... 42

Myopathies myofibrillaires – Myofibrillar myopathies... 42

Myoglobinopathie – Myoglobinopaty ... 42

Myotonies congénitales – Congenital myotonia ... 43

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) ... 44

Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ... 44

Divers – Miscellaneous ... 48

Anatomopathologie – Anatomical pathology ... 50

Cardiologie – Cardiology ... 51

Électromyographie – Electromyography ... 53

Gastroentérologie / Nutrition – Gastroenterology / Nutrition ... 54

Imagerie médicale – Medical imaging ... 54

Médecine physique et de réadaptation – Physical and rehabilitation medicine ... 57

Nephrologie – Nephrology ... 58

Ophtalmologie – Ophthalmology ... 58

Pneumologie – Pulmonogy ... 59

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

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

Multicenter Study

1. Orphanet J Rare Dis . 2021 Oct 26;16(1):450. doi: 10.1186/s13023-021-02090-y.

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases Lucie Isoline Pisella¹, Sara Fernandes², Guilhem Solé³, Tanya Stojkovic⁴, Céline Tard⁵, Jean-Baptiste Chanson⁶ , Françoise Bouhour⁷, Emmanuelle Salort-Campana^{1 8}, Guillemette Beaudonnet⁹, Louise Debergé³, Fanny Duval³ , Aude-Marie Grapperon⁸, Marion Masingue⁴, Aleksandra Nadaj-Pakleza⁶, Yann Péréon¹⁰, Frédérique Audic¹¹ , Anthony Behin⁴, Diane Friedman¹², Armelle Magot¹⁰, Jean-Baptiste Noury¹³, Sarah Souvannanorath¹⁴, Karim Wahbi^{15 16}, Jean-Christophe Antoine¹⁷, Kévin Bigaut⁶, Jean-Philippe Camdessanché¹⁷, Pascal Cintas¹⁸, Rabab Debs¹⁹, Caroline Espil-Taris²⁰, Laurent Kremer⁶, Thierry Kuntzer²¹, Pascal Laforêt^{12 22}, Vincent Laugel²³, Martial Mallaret²⁴, Maud Michaud²⁵, Sylvain Nollet²⁶, Juliette Svahn⁷, Savine Vicart⁴, Rocio Nur Villar-Quiles⁴, Isabelle Desguerre²⁷, David Adams²⁸, Sandrine Segovia-Kueny²⁹, Géraldine Merret²⁹, Elhadi Hammouda²⁹, Annamaria Molon¹, Shahram Attarian^{30 31}

 ¹ Filnemus, AP-HM, Marseille, France.

 ² Department of Epidemiology and Health Economics, AP-HM, Marseille, France.

 ³ Department of Neurology and Neuromuscular Disorders, Reference Center for Neuromuscular Disorders AOC, University Hospitals of Bordeaux (Pellegrin University Hospital), place Amélie-Raba-Léon, 33076, Bordeaux, France.

 ⁴ Reference Center for Neuromuscular Disorders Nord/Est/Île-de-France, Sorbonne Université, AP-HP, Hôpital Pitié-Salpêtrière, Inserm UMR_S 974, Paris, France.

 ⁵ CHU de Lille, Inserm U1171, Reference Center for Neuromuscular Disorders Nord/Est/Île-de-France, Lille, France.

 ⁶ Neurology Department, Reference Center for Neuromuscular Diseases 'Nord-Est-Ile de France', University Hospitals of Strasbourg, Strasbourg, France.

 ⁷ ENMG Unit, Reference Center for Neuromuscular Diseases, University Hospitals of Lyon (Neurologic Hospital Pierre Wertheimer), Lyon, France.

 ⁸ Reference Center for Neuromuscular Diseases and ALS, Timone University Hospital, Aix-Marseille University, ERN-Center, Marseille, France.

 ⁹ Clinical Neurophysiology Unit, Reference Center for Neuromuscular Disease, University Hospital of Bicetre, Le Kremlin Bicêtre, France.

 ¹⁰ Reference Center for Neuromuscular Diseases, Filnemus, ERN Euro-NMD, CHU Nantes, Nantes, France.

 ¹¹ Reference Center for Neuromuscular Diseases, Neuropediatric Unit Timone University Hospital, Marseille, France.

 ¹² Neurology Department, Nord/Est/Île-de-France Neuromuscular Reference Center, Raymond-Poincaré Teaching Hospital, AP-HP, Garches, France.

 ¹³ Reference Center for Neuromuscular Diseases AOC, University Hospital of Brest, Brest, France.

 ¹⁴ Reference Center for Neuromuscular Diseases, Henri Mondor University Hospital, Assistance Publique - Hôpitaux de Paris, Créteil, France.

 ¹⁵ AP-HP, Cochin Hospital, Cardiology Department, FILNEMUS, Reference Center for Neuromuscular Diseases Nord/Est/Île-de-France, Paris-Descartes, Sorbonne Paris Cité University, 75006, Paris, France.

 ¹⁶ INSERM Unit 970, Paris Cardiovascular Research Center (PARCC), Paris, France.

 ¹⁷ Department of Neurology, Reference Center for Neuromuscular Diseases, University Hospital of Saint-Etienne, Saint-Etienne, France.

 ¹⁸ Department of Neurology, Reference Center for Neuromuscular Diseases, University Hospitals of Toulouse (Purpan Hospital), Toulouse, France.

 ¹⁹ Clinical Neurophysiology Department, Hôpital Pitié-Salpêtrière, APHP Paris VI Université, Paris, France.

 ²⁰ Department of Pediatric Neurology, Neuromuscular Center, CHU Bordeaux, Bordeaux, France.

 ²¹ Nerve-Muscle Unit, Neurology Service, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), University of Lausanne, Lausanne, Switzerland.

 ²² INSERM U1179, END-ICAP, Versailles-Saint-Quentin-en-Yvelines University, Université Paris Saclay, Montigny-le-Bretonneux, France.

 ²³ Department of Pediatrics, Strasbourg University Hospital, Strasbourg Cedex, France.

 ²⁴ Department of Neurology, Competence Center for Neuromuscular Diseases, University Hospital Centre Grenoble Alpes, CS 10217, 38043, Grenoble Cedex 9, France.

 ²⁵ Department of Neurology, Nancy University Hospital, Nancy, France.

 ²⁶ Clinical Neurology-Electrophysiology Department, University Hospital (CHRU) Besançon, Besançon, France.

 ²⁷ Reference Center for Neuromuscular Disorders Nord/Est/Île-de-France, Pediatric Neurology Department, Necker-Enfants-Malades Hospital, AP-HP, Paris, France.

 ²⁸ Department of Neurology, University Hospital of Bicêtre, Le Kremlin-Bicêtre, France.

 ²⁹ AFM-Téléthon, Evry, France.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

 ³⁰ Filnemus, AP-HM, Marseille, France. Shahram.ATTARIAN@ap-hm.fr.

 ³¹ Reference Center for Neuromuscular Diseases and ALS, Timone University Hospital, Aix-Marseille University, ERN-Center, Marseille, France. Shahram.ATTARIAN@ap-hm.fr.

 PMID: 34702344

 PMCID: PMC8547719

 DOI: 10.1186/s13023-021-02090-y

Keywords: COVID-19; Neuromuscular diseases; Prognosis; Risk factor.

2. Eur J Neurol . 2021 Oct 26. doi: 10.1111/ene.15158. Online ahead of print.

Predictive factors for a severe course of COVID-19 infection in myasthenia gravis patients with an overall impact on myasthenic outcome status and survival

Michala Jakubikova¹, Michaela Tyblova¹, Adam Tesar^{1 2}, Magda Horakova^{3 4}, Daniela Vlazna 3 4 5 , Irena Rysankova¹, Iveta Novakova¹, Kristyna Doleckova¹, Pavel Dusek¹, Jiri Pitha¹, Stanislav Vohanka^{3 4}, Josef Bednarik^{3 4}

 ¹ Department of Neurology and Center for Clinical Neuroscience, Charles University in Prague, First Faculty of Medicine and General University Hospital in Prague, Czech Republic.

 ² Institute of Biophysics and Informatics of the First Faculty of Medicine, Charles University, Prague, Czech Republic.

 ³ Department of Neurology, ERN EURO-NMD Center, University Hospital Brno, Brno, Czech Republic.

 ⁴ Faculty of Medicine, Masaryk University, Brno, Czech Republic.

 ⁵ Department of Rehabilitation, University Hospital Brno, Brno, Czech Republic.

 PMID: 34699086

 DOI: 10.1111/ene.15158

3. Vaccines (Basel) . 2021 Sep 29;9(10):1112. doi: 10.3390/vaccines9101112.

COVID-19 Vaccination in Patients with Myasthenia Gravis: A Single-Center Case Series Zhe Ruan¹, Yonglan Tang¹, Chunhong Li¹, Chao Sun¹, Ying Zhu¹, Zhuyi Li¹, Ting Chang¹

 ¹ Department of Neurology, Tangdu Hospital, The Fourth Military Medical University, Xi'an 710038, China.

 PMID: 34696220

 DOI: 10.3390/vaccines9101112

Keywords: COVID-19; SARS-CoV-2 infection; myasthenia gravis; safety; vaccination.

4. Fed Pract . 2021 Aug;38(8):382-386. doi: 10.12788/fp.0166.

Myasthenic Crisis After Recurrent COVID-19 Infection Adam M Spanier¹, James I Gragg¹

 ¹ is a Resident, and is a Faculty Member, both at Carl R. Darnall Army Medical Center in Fort Hood, Texas.

 PMID: 34733091

 DOI: 10.12788/fp.0166

Amyotrophies bulbospinales – Bulbospinal amyotrophies

5. Stem Cell Res . 2021 Oct 30;57:102589. doi: 10.1016/j.scr.2021.102589. Online ahead of print.

Generation of an induced pluripotent stem cell line ATCi001-A from a three-year-old Chinese girl with Brown-Vialetto-Van Laere syndrome-2

Jiehui Ma¹, Kun Ni¹, Wei Cai¹, Bingying Li², Qiaoqiao Qian¹, Dan Sun³

 ¹ Department of Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science&Technology, Wuhan, Hubei, China.

 ² Aegicare (Shenzhen) Technology Co., Ltd., Shenzhen 518060, China.

 ³ Department of Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science&Technology, Wuhan, Hubei, China. Electronic address: bloveriver@163.com.

 PMID: 34736036

 DOI: 10.1016/j.scr.2021.102589

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

6. Rehabil Res Pract . 2021 Oct 23;2021:2540324. doi: 10.1155/2021/2540324. eCollection 2021.

Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick Turn

Joseph A Shrader¹, Ashwini Sansare¹, Vincent Shieh¹, Joshua G Woolstenhulme¹, Julie Rekant¹, Rafael Jiménez- Silva¹, Galen O Joe¹, Angela Kokkinis², Kenneth H Fischbeck², Christopher Grunseich², Cristiane Zampieri¹

 ¹ Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD, USA.

 ² Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

 PMID: 34725572

 DOI: 10.1155/2021/2540324

Amyotrophies spinales – Spinal amyotrophies

Editorial

7. Muscle Nerve . 2021 Oct 23. doi: 10.1002/mus.27442. Online ahead of print.

Methodological challenges in measuring meaningful change in individuals with spinal muscular atrophy

Maryam Oskoui¹, Beth K Potter²

 ¹ Departments of Pediatrics and Neurology & Neurosurgery, McGill University, Montréal, Québec, Canada.

 ² School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.

 PMID: 34687231

 DOI: 10.1002/mus.27442

Keywords: SMA; epidemiology; motor function; outcome measure; spinal muscular atrophy.

Review

8. Arq Neuropsiquiatr . 2021 Oct;79(10):912-923. doi: 10.1590/0004-282X-ANP-2020-0429.

Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review

Wladimir Bocca Vieira de Rezende Pinto¹, Paulo Victor Sgobbi de Souza¹, Bruno Mattos Lombardi Badia¹, Igor Braga Farias¹, José Marcos Vieira de Albuquerque Filho¹, Eduardo Augusto Gonçalves¹, Roberta Ismael Lacerda Machado¹ , Acary Souza Bulle Oliveira¹

 ¹ Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Setor de Investigações nas Doenças Neuromusculares, São Paulo SP, Brazil.

 PMID: 34706022

 DOI: 10.1590/0004-282X-ANP-2020-0429

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

9. Eur J Histochem . 2021 Nov 4;65(s1). doi: 10.4081/ejh.2021.3294.

Organotypic spinal cord cultures: An in vitro 3D model to preliminary screen treatments for spinal muscular atrophy

Marina Boido¹, Elena De Amicis², Katia Mareschi³, Franca Fagioli⁴, Alessandro Vercelli⁵

 ¹ Neuroscience Institute Cavalieri Ottolenghi, Department of Neuroscience "Rita Levi Montalcini", University of Turin. marina.boido@unito.it.

 ² Neuroscience Institute Cavalieri Ottolenghi, Department of Neuroscience "Rita Levi Montalcini", University of Turin. deamicis.elena@yahoo.it.

 ³ Department of Public Health and Paediatrics, University of Turin; Stem Cell Transplantation and Cellular Therapy Laboratory, Paediatric Onco-Haematology Division, Regina Margherita Children's Hospital, City of Health and Science of Turin. katia.mareschi@unito.it.

 ⁴ Department of Public Health and Paediatrics, University of Turin; Stem Cell Transplantation and Cellular Therapy Laboratory, Paediatric Onco-Haematology Division, Regina Margherita Children's Hospital, City of Health and Science of Turin. franca.fagioli@unito.it.

 ⁵ Neuroscience Institute Cavalieri Ottolenghi, Department of Neuroscience "Rita Levi Montalcini", University of Turin. alessandro.vercelli@unito.it.

 PMID: 34734684

 DOI: 10.4081/ejh.2021.3294

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Published Erratum

10. Neurotherapeutics . 2021 Nov 1. doi: 10.1007/s13311-021-01120-8. Online ahead of print.

Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study

Stacy A Rudnicki¹, Jinsy A Andrews^{1 2}, Tina Duong³, Bettina M Cockroft^{1 4}, Fady I Malik¹, Lisa Meng¹, Jenny Wei¹, Andrew A Wolff¹, Angela Genge⁵, Nicholas E Johnson^{6 7}, Carolina Tesi-Rocha³, Anne M Connolly^{8 9}, Basil T Darras¹⁰, Kevin Felice¹¹, Richard S Finkel^{12 13}, Perry B Shieh¹⁴, Jean K Mah¹⁵, Jeffrey Statland¹⁶, Craig

Campbell¹⁷, Ali A Habib¹⁸, Nancy L Kuntz¹⁹, Maryam Oskoui²⁰, John W Day²¹

 ¹ Cytokinetics, Incorporated, South San Francisco, CA, USA.

 ² Columbia University, New York, NY, USA.

 ³ Stanford University, Stanford, CA, USA.

 ⁴ Sangamo Therapeutics, Brisbane, CA, USA.

 ⁵ Montreal Neurological Institute, Montreal, QC, Canada.

 ⁶ Virginia Commonwealth University, Richmond, VA, USA.

 ⁷ University of Utah, Salt Lake City, UT, USA.

 ⁸ Nationwide Children's Hospital, Columbus, OH, USA.

 ⁹ Washington University, St Louis, MO, USA.

 ¹⁰ Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.

 ¹¹ Hospital for Special Care, New Britain, CT, USA.

 ¹² Nemours Children's Hospital, Orlando, FL, USA.

 ¹³ St. Jude Children's Research Hospital, Memphis, TN, USA.

 ¹⁴ University of California, Los Angeles, Los Angeles, CA, USA.

 ¹⁵ University of Calgary, Alberta Children's Hospital, Calgary, AB, Canada.

 ¹⁶ University of Kansas, Lawrence, KS, USA.

 ¹⁷ Department of Pediatrics, Epidemiology and Clinical Neurological Sciences, University of Western Ontario, London Health Sciences Centre, London, ON, Canada.

 ¹⁸ University of California, Irvine, Orange, CA, USA.

 ¹⁹ Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.

 ²⁰ McGill University Health Centre Research Institute, Montreal, QC, Canada.

 ²¹ Stanford University, Stanford, CA, USA. jwday@stanford.edu.

 PMID: 34731415

 DOI: 10.1007/s13311-021-01120-8 Erratum for

 Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.

Rudnicki SA, Andrews JA, Duong T, Cockroft BM, Malik FI, Meng L, Wei J, Wolff AA, Genge A, Johnson NE, Tesi-Rocha C, Connolly AM, Darras BT, Felice K, Finkel RS, Shieh PB, Mah JK, Statland J, Campbell C, Habib AA, Kuntz NL, Oskoui M, Day JW. Neurotherapeutics. 2021 Apr;18(2):1127-1136. doi: 10.1007/s13311-020-01004-3. Epub 2021 Feb 23. PMID:

33624184 Free PMC article.

MYOBASE LINK : https://www.myobase.org/index.php?lvl=notice_display&id=72038

Review

11. Front Neurol . 2021 Oct 13;12:726468. doi: 10.3389/fneur.2021.726468. eCollection 2021.

Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy Katarzyna Kotulska¹, Aviva Fattal-Valevski², Jana Haberlova³

 ¹ Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.

 ² Pediatric Neurology Institute, "Dana-Dwek" Children Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel.

 ³ Neuromuscular Center, Department of Pediatric Neurology, Faculty Hospital Motol, 2nd School of Medicine Charles University, Prague, Czechia.

 PMID: 34721262

 DOI: 10.3389/fneur.2021.726468

Keywords: AAV9; gene therapy; onasemnogene abeparvovec; spinal muscular atrophy; spinal muscular atrophy treatment.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

12. Zhongguo Dang Dai Er Ke Za Zhi . 2021 Oct 15;23(10):1038-1043. doi: 10.7499/j.issn.1008-8830.2106025.

Natural history of spinal muscular atrophy in children: an analysis of 117 cases [Article in English, Chinese]

Yun-Ying Yang¹, Ping Yuan¹, Mei Li¹, Li Jiang¹, Si-Qi Hong¹

 ¹ Department of Neurology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/China International Science and Technology Cooperation Base of Child Development and Critical Disorders/Chongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory Disorders, Chongqing 400014, China (Hong S-Q, Email: siqihong@hotmail.com).

 PMID: 34719420

 DOI: 10.7499/j.issn.1008-8830.2106025 in English, Chinese

Keywords: Child; Natural history; SMN1 gene; Spinal muscular atrophy; Survival analysis.

13. Adv Ther . 2021 Dec;38(12):5809-5828. doi: 10.1007/s12325-021-01938-w. Epub 2021 Oct 28.

Nusinersen for Spinal Muscular Atrophy in the United States: Findings From a Retrospective Claims Database Analysis

Marjolaine Gauthier-Loiselle¹, Martin Cloutier¹, Walter Toro², Anish Patel², Sherry Shi¹, Mikhail Davidson¹, Matthias Bischof³, Nicole LaMarca², Omar Dabbous⁴

 ¹ Analysis Group, Inc., 1190 avenue des Canadiens-de-Montréal, Tour Deloitte, Suite 1500, Montreal, QC, Canada.

 ² Novartis Gene Therapies, Inc., 2275 Half Day Road, Suite 200, Bannockburn, IL, 60015, USA.

 ³ Novartis Gene Therapies, Inc., c/o Regus, ZH Airport Hotelstrasse 1, 8058, Zurich, Switzerland.

 ⁴ Novartis Gene Therapies, Inc., 2275 Half Day Road, Suite 200, Bannockburn, IL, 60015, USA.

omar.dabbous@novartis.com.

 PMID: 34713391

 DOI: 10.1007/s12325-021-01938-w

Keywords: Adherence; Claims database; Costs; Database analysis; Discontinuation; Health care costs; Health care resource utilization; Nusinersen; Real-world study; Spinal muscular atrophy.

14. Genes (Basel) . 2021 Oct 14;12(10):1621. doi: 10.3390/genes12101621.

Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots

Yogik Onky Silvana Wijaya¹, Hisahide Nishio^{1 2}, Emma Tabe Eko Niba¹, Kentaro Okamoto³, Haruo Shintaku⁴ , Yasuhiro Takeshima⁵, Toshio Saito⁶, Masakazu Shinohara¹, Hiroyuki Awano⁷

 ¹ Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan.

 ² Faculty of Rehabilitation, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Hyogo, Japan.

 ³ Department of Pediatrics, Ehime Prefectural Imabari Hospital, 4-5-5 Ishiicho, Imabari 794-0006, Ehime, Japan.

 ⁴ Department of Pediatrics, Osaka City University Graduate School of Medicine, 1-4-3 Asahi-Machi, Abeno-ku, Osaka 545-8585, Osaka, Japan.

 ⁵ Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawacho, Nishinomiya 663-8501, Hyogo, Japan.

 ⁶ Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, 5-1-1 Toneyama, Toyonaka 560-8552, Osaka, Japan.

 ⁷ Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan.

 PMID: 34681015

 DOI: 10.3390/genes12101621

Keywords: SMN1; dried saliva spot; melting peak analysis; modified competitive oligonucleotide priming-polymerase chain reaction; nested PCR; spinal muscular atrophy.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-11-1 du 22 octobre au 4 novembre 2021 (October 22 to november 4, 2021) 15. Stem Cell Res . 2021 Oct 13;57:102563. doi: 10.1016/j.scr.2021.102563. Online ahead of print.

Generation of DMBi002-A human induced pluripotent stem cell line from patient with Spinal muscular atrophy type 3

Kalina Andrysiak¹, Alicja Martyniak¹, Anna Potulska-Chromik², Anna Kostera-Pruszczyk², Jacek Stępniewski¹, Józef Dulak³

 ¹ Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland.

 ² Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

 ³ Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland. Electronic address: jozef.dulak@uj.edu.pl.

 PMID: 34678665

 DOI: 10.1016/j.scr.2021.102563

16. Natl Sci Rev . 2019 Sep 3;7(1):92-101. doi: 10.1093/nsr/nwz131. eCollection 2020 Jan.

Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice

Jin-Jing Li^{1 2}, Xiang Lin^{1 2}, Cheng Tang³, Ying-Qian Lu¹, Xinde Hu³, Erwei Zuo³, He Li³, Wenqin Ying³, Yidi Sun⁴, Lu-Lu Lai¹, Hai-Zhu Chen¹, Xin-Xin Guo¹, Qi-Jie Zhang^{1 2}, Shuang Wu¹, Changyang Zhou³, Xiaowen Shen³, Qifang Wang³, Min-Ting Lin^{1 2}, Li-Xiang Ma⁵, Ning Wang^{1 2}, Adrian R Krainer⁶, Linyu Shi³, Hui Yang³ , Wan-Jin Chen^{1 2}

 ¹ Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China.

 ² Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou 350005, China.

 ³ Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China.

 ⁴ Key Lab of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China.

 ⁵ Department of Anatomy, Histology & Embryology, Shanghai Medical College, Fudan University, Shanghai 200032, China.

 ⁶ Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.

 PMID: 34691481

 DOI: 10.1093/nsr/nwz131

Keywords: CRISPR/Cas9; SMN2; germline correction; spinal muscular atrophy; splicing-regulatory elements.

Amyotrophie spinale avec détresse respiratoire type 1 (SMARD1) – Spinal muscular atrophy with respiratory distress type 1

17. Hum Mol Genet . 2021 Nov 2;ddab317. doi: 10.1093/hmg/ddab317. Online ahead of print.

The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects Caley E Smith^{1 2}, Monique A Lorson^{1 2}, Sara M Ricardez Hernandez^{1 2}, Zayd Al Rawi^{1 2}, Jiude Mao^{1 2}, Jose Marquez^{1 2}, Eric Villalón^{1 2}, Amy N Keilholz³, Catherine L Smith³, Mona O Garro-Kacher^{1 2}, Toni Morcos^{1 2} , Daniel J Davis⁴, Elizabeth C Bryda^{1 4}, Nicole L Nichols³, Christian L Lorson^{1 2}

 ¹ Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.

 ² Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.

 ³ Department of Biomedical Sciences, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.

 ⁴ Animal Modeling Core, University of Missouri, Columbia, MO 65211, USA.

 PMID: 34726235

 DOI: 10.1093/hmg/ddab317

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Canalopathies musculaires – Muscular channelopathies

Case Reports

18. Case Rep Neurol . 2021 Aug 2;13(2):515-520. doi: 10.1159/000517899. eCollection May-Aug 2021.

Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome

Nina Žakelj¹, Damjan Osredkar^{1 2}, Nataša Šuštar¹

 ¹ Department of Pediatric Neurology, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

 ² Faculty of Medicine, Centre for Developmental Neuroscience, University of Ljubljana, Ljubljana, Slovenia.

 PMID: 34720956

 DOI: 10.1159/000517899

Keywords: Acetazolamide; Andersen-Tawil syndrome; Muscle paralysis; Ventricular arrhythmia.

19. Biochemistry . 2021 Oct 22. doi: 10.1021/acs.biochem.1c00555. Online ahead of print.

Proteomic Analysis of the Functional Inward Rectifier Potassium Channel (Kir) 2.1 Reveals Several Novel Phosphorylation Sites

Kyle A Brown^{1 2}, Corey Anderson³, Louise Reilly³, Kunal Sondhi³, Ying Ge^{4 5}, Lee L Eckhardt³

 ¹ Department of Surgery, University of Wisconsin-Madison, Madison, Wisconsin 53706, United States.

 ² Department of Chemistry, University of Wisconsin-Madison, Madison, Wisconsin 53706, United States.

 ³ Cellular and Molecular Arrhythmia Research Program, Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, Madison, Wisconsin 53706, United States.

 ⁴ Department of Cell and Regenerative Biology, University of Wisconsin-Madison, Madison, Wisconsin 53705, United States.

 ⁵ Human Proteomics Program, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, Wisconsin 53705, United States.

 PMID: 34676745

 DOI: 10.1021/acs.biochem.1c00555

Collagénopathies – Collagenopathies

20. Ann Indian Acad Neurol . Jul-Aug 2021;24(4):547-551. doi: 10.4103/aian.AIAN_1182_20. Epub 2021 Apr 5.

Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey

Muhammet G Kutluk¹, Naz Kadem², Omer Bektas³, Nadide C Randa⁴, Gökcen O Tuncer³, Pelin Albayrak³, Tuba Eminoglu⁵, Serap T Teber³

 ¹ Department of Paediatrics Neurology, Antalya Research and Training Hospital, Antalya, Turkey.

 ² Department of Paediatrics, Antalya Research and Training Hospital, Antalya, Turkey.

 ³ Department of Paediatric Neurology, Ankara University Faculty of Medicine, Ankara, Turkey.

 ⁴ Department of Medical Genetics, Antalya Research and Training Hospital, Antalya, Turkey.

 ⁵ Department of Paediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Turkey.

 PMID: 34728949

 DOI: 10.4103/aian.AIAN_1182_20

Keywords: Bethlem myopathy; COL6A2; Ullrich congenital muscular dystrophy; collagen VI.

21. Ann Clin Transl Neurol . 2021 Nov 2. doi: 10.1002/acn3.51450. Online ahead of print.

Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies

Eleonora Guadagnin¹, Payam Mohassel¹, Kory R Johnson², Lin Yang³, Mariarita Santi⁴, Prech Uapinyoying^{1 5} , Jahannaz Dastgir^{1 6}, Ying Hu¹, Allissa Dillmann⁷, Mark R Cookson⁷, A Reghan Foley¹, Carsten G Bönnemann¹

 ¹ Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 35 Convent Drive, BLDG 35 RM 2A116, Bethesda, Maryland, 20892, USA.

 ² Bioinformatics Section, Intramural Information Technology & Bioinformatics Program, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 10 Center Drive, BG 10 RM 5S223, Bethesda, Maryland, 20892, USA.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

 ³ Division of Biomedical Informatics, Department of Biomedical Engineering, University of Florida, 1064 Center Drive, NEB 364, Gainsville, Florida, 32611, USA.

 ⁴ Department of Pathology, Children's Hospital of Philadelphia, 324 South 34th Street, Philadelphia, Pennsylvania, 19104, USA.

 ⁵ Center for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, DC, 20010, USA.

 ⁶ Atlantic Health System, Goryeb Children's Hospital, Morristown, New Jersey, USA.

 ⁷ Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, 35 Convent Drive, BG 35 RM 1A116, Bethesda, Maryland, 20892, USA.

 PMID: 34729958

 DOI: 10.1002/acn3.51450

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

Case Reports

22. World J Clin Cases . 2021 Oct 16;9(29):8852-8857. doi: 10.12998/wjcc.v9.i29.8852.

Anesthesia management in a pediatric patient with Becker muscular dystrophy undergoing laparoscopic surgery: A case report

Ling Peng¹, Wei Wei²

 ¹ Department of Anaesthesiology, West China Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China.

 ² Department of Anaesthesiology, West China Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China. weiw@scu.edu.cn.

 PMID: 34734066

 DOI: 10.12998/wjcc.v9.i29.8852

Keywords: Becker muscular dystrophy; Case report; Pediatric patient; Total intravenous anesthesia; Transversus abdominis plane block.

23. J Gen Physiol . 2022 Jan 3;154(1):e202112914. doi: 10.1085/jgp.202112914. Epub 2021 Nov 3.

The Donnan-dominated resting state of skeletal muscle fibers contributes to resilience and longevity in dystrophic fibers

Catherine E Morris^{1 2}, Joshua J Wheeler³, Béla Joos^{2 3}

 ¹ Neuroscience, Ottawa Hospital Research Institute, Ottawa, Canada.

 ² Center for Neural Dynamics, University of Ottawa, Ottawa, Canada.

 ³ Department of Physics, University of Ottawa, Ottawa, Canada.

 PMID: 34731883

 DOI: 10.1085/jgp.202112914

Review

24. Neurol Sci . 2021 Nov 3. doi: 10.1007/s10072-021-05499-2. Online ahead of print.

Becker muscular dystrophy: case report, review of the literature, and analysis of differentially expressed hub genes

Min Li^{# 1}, Yongli Han^{# 1}, Shuying Wang^{# 1}, Yajie Yu¹, Mengling Liu¹, Yingfeng Xia¹, Ze'an Weng¹, Ling Zhou¹ , Xiaoyan He¹, Jun Wang¹, Zhi He², Liang Yu³, Yunhong Zha⁴

 ¹ Institute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China.

 ² Medical School of China Three Gorges University, Yichang, 443002, China.

 ³ School of Computer Science and Technology, Xidian University, Xi'an, China. lyu@xidian.edu.cn.

 ⁴ Institute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China. yzha7808@ctgu.edu.cn.

 PMID: 34731335

 DOI: 10.1007/s10072-021-05499-2

Keywords: Becker muscular dystrophy; PPI network; Systematic review; TUBA1A; X-linked recessive inheritance.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

25. Ann Indian Acad Neurol . Jul-Aug 2021;24(4):603-604. doi: 10.4103/aian.AIAN_900_20. Epub 2021 Apr 15.

Association of Autism Spectrum Disorder with Pre-symptomatic Duchenne Muscular Dystrophy:

Isolated Elevation of Transaminases as a Diagnostic Clue Prateek K Panda¹, Deep Shikha¹, Indar K Sharawat¹

 ¹ Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

 PMID: 34728965

 DOI: 10.4103/aian.AIAN_900_20 Review

26. Digit Biomark . 2021 Aug 5;5(2):183-190. doi: 10.1159/000517411. eCollection May-Aug 2021.

First Regulatory Qualification of a Novel Digital Endpoint in Duchenne Muscular Dystrophy: A Multi- Stakeholder Perspective on the Impact for Patients and for Drug Development in Neuromuscular Diseases

Laurent Servais^{1 2}, Eric Camino³, Aude Clement⁴, Craig M McDonald⁵, Jacek Lukawy⁴, Linda P Lowes⁶, Damien Eggenspieler⁷, Francesca Cerreta⁸, Paul Strijbos⁴

 ¹ MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, United Kingdom.

 ² Division of Child Neurology, Centre de Référence des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège and University of Liège, Liege, Belgium.

 ³ Parent Project Muscular Dystrophy, Hackensack, New Jersey, USA.

 ⁴ F. Hoffmann-La Roche Ltd, Basel, Switzerland.

 ⁵ University of California Davis Health, Sacramento, California, USA.

 ⁶ Abigail Wexner Research Institute at Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio, USA.

 ⁷ SYSNAV, Paris, France.

 ⁸ European Medicines Agency, Amsterdam, The Netherlands.

 PMID: 34723071

 DOI: 10.1159/000517411

Keywords: Digital endpoints; Duchenne muscular dystrophy; Neuromuscular disease.

27. Front Physiol . 2021 Oct 13;12:689179. doi: 10.3389/fphys.2021.689179. eCollection 2021.

Fine Tuning of Phosphorothioate Inclusion in 2'-O-Methyl Oligonucleotides Contributes to Specific Cell Targeting for Splice-Switching Modulation

Yoshitsugu Aoki^{1 2}, Cristina S J Rocha³, Taavi Lehto³, Shouta Miyatake¹, Henrik Johansson⁴, Yasumasa

Hashimoto¹, Joel Z Nordin^{1 3}, Imre Mager², Misako Aoki², McClorey Graham², Chaitra Sathyaprakash¹, Thomas C Roberts², Matthew J A Wood², Mark A Behlke⁵, Samir El Andaloussi^{2 3}

 ¹ Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

 ² Department of Paediatrics, University of Oxford, Oxford, United Kingdom.

 ³ Department of Laboratory Medicine, Clinical Research Center, Karolinska Institutet, Karolinska University Hospital, Huddinge, Sweden.

 ⁴ Department of Oncology-Pathology, Clinical Research Center, Karolinska Institutet, Karolinska University Hospital, Huddinge, Sweden.

 ⁵ Integrated DNA Technologies, Inc., Coralville, IA, United States.

 PMID: 34721051

 DOI: 10.3389/fphys.2021.689179

Keywords: 2OMePS; Duchenne muscular dystrophy; phosphorothioate; skeletal muscle; splice-switching oligonucleotide (SSO).

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-11-1 du 22 octobre au 4 novembre 2021 (October 22 to november 4, 2021) 28. J Neuromuscul Dis . 2021 Oct 29. doi: 10.3233/JND-210724. Online ahead of print.

Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids

Tina Duong^{1 2}, Jennifer Canbek³, Alicia Fernandez-Fernandez³, Erik Henricson⁴, Marisa Birkmeier⁵, Catherine Siener⁶, Carolina Tesi Rocha¹, Craig McDonald⁴, Heather Gordish-Dressman⁷, CINRG Investigators

 ¹ Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.

 ² Department of Rehabilitation, Stanford Healthcare, Stanford, CA, USA.

 ³ Physical Therapy Department, Nova Southeastern University, Fort Lauderdale, FL, USA.

 ⁴ University of California, Davis, Department of Neurology, Sacramento, CA USA.

 ⁵ Department of Health, Human Function, and Rehabilitation Sciences, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

 ⁶ Department of Neurology, Washington University, St. Louis, MO, USA.

 ⁷ Childrens National Medical Center, Department of Biostatistics, Washington DC, USA.

 PMID: 34719507

 DOI: 10.3233/JND-210724

Keywords: Duchenne muscular dystrophy; contracture; gait; strength.

29. Bone . 2021 Oct 27;116248. doi: 10.1016/j.bone.2021.116248. Online ahead of print.

Cessation of ambulation results in a dramatic loss of trabecular bone density in boys with Duchenne muscular dystrophy (DMD)

N J Crabtree¹, H Roper², N J Shaw³

 ¹ Department of Endocrinology and Diabetes, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK; Department of Paediatrics, Heartlands Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK. Electronic address: Nicola.crabtree@nhs.net.

 ² Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.

 ³ Department of Endocrinology and Diabetes, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK; Department of Paediatrics, Heartlands Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.

 PMID: 34718220

 DOI: 10.1016/j.bone.2021.116248

Keywords: Ambulation; Bone density; Glucocorticoids; Muscular dystrophy; pQCT.

30. Nat Commun . 2021 Oct 29;12(1):6264. doi: 10.1038/s41467-021-26516-0.

Resolvin-D2 targets myogenic cells and improves muscle regeneration in Duchenne muscular dystrophy

Junio Dort^{1 2}, Zakaria Orfi^{1 3}, Paul Fabre^{1 3}, Thomas Molina^{1 3}, Talita C Conte^{1 3}, Karine Greffard⁴, Ornella Pellerito¹, Jean-François Bilodeau^{4 5}, Nicolas A Dumont^{6 7}

 ¹ CHU Sainte-Justine Research Center, Montreal, QC, Canada.

 ² School of rehabilitation, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada.

 ³ Department of pharmacology and physiology, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada.

 ⁴ Endocrinology and Nephrology Unit, CHU de Québec-Laval University Research Center, Quebec city, QC, Canada.

 ⁵ Department of Medicine, Faculty of Medicine, Laval University, Quebec city, QC, Canada.

 ⁶ CHU Sainte-Justine Research Center, Montreal, QC, Canada. nicolas.dumont.1@umontreal.ca.

 ⁷ School of rehabilitation, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada.

nicolas.dumont.1@umontreal.ca.

 PMID: 34716330

 DOI: 10.1038/s41467-021-26516-0

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n° 2021-11-1 du 22 octobre au 4 novembre 2021 (October 22 to november 4, 2021) 31. PLoS One . 2021 Oct 29;16(10):e0259071. doi: 10.1371/journal.pone.0259071. eCollection 2021.

Relationships between in vivo surface and ex vivo electrical impedance myography measurements in three different neuromuscular disorder mouse models

Sarbesh R Pandeya¹, Janice A Nagy¹, Daniela Riveros¹, Carson Semple¹, Rebecca S Taylor¹, Benjamin Sanchez² , Seward B Rutkove¹

 ¹ Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, United States of America.

 ² Department of Electrical and Computer Engineering, University of Utah, Salt Lake City, Utah, United States of America.

 PMID: 34714853

 DOI: 10.1371/journal.pone.0259071

32. Cell Commun Signal . 2021 Oct 27;19(1):105. doi: 10.1186/s12964-021-00785-0.

Perturbation of PI3K/Akt signaling affected autophagy modulation in dystrophin-deficient myoblasts Muhammad Dain Yazid^{1 2}, Chen Hung-Chih^{3 4}

 ¹ Centre for Tissue Engineering and Regenerative Medicine, Faculty of Medicine, UKM Medical Centre, Jalan Yaacob Latiff, 56000, Cheras, Kuala Lumpur, Malaysia. dain@ukm.edu.my.

 ² School of Biosciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK. dain@ukm.edu.my.

 ³ School of Biosciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.

 ⁴ Academia Sinica, No. 28, Lane 70, Section 2, Yanjiuyuan Rd, Nangang District, Taipei City, 115, Taiwan.

 PMID: 34706731

 DOI: 10.1186/s12964-021-00785-0

Keywords: Autophagy; Duchenne muscular dystrophy; Dystrophin; Myoblasts; PI3K/Akt signalling.

33. Dis Model Mech . 2021 Oct 27;dmm.049006. doi: 10.1242/dmm.049006. Online ahead of print.

Extensor carpi ulnaris muscle shows unexpected slow-to-fast fiber type switch in Duchenne muscular dystrophy dogs

Chady H Hakim^{1 2}, Hsiao T Yang¹, Matthew J Burke¹, James Teixeira¹, Gregory J Jenkins¹, N N Yang², Gang Yao³, Dongsheng Duan 1 3 4 5

 ¹ Department of Molecular Microbiology and Immunology, School of Medicine, The University of Missouri, Columbia, MO, USA.

 ² National Center for Advancing Translational Sciences, NIH, Bethesda, MD, USA.

 ³ Department of Biomedical, Biological & Chemical Engineering, College of Engineering, The University of Missouri, Columbia, MO, USA.

 ⁴ Department of Neurology, School of Medicine, The University of Missouri, Columbia, MO, USA.

 ⁵ Department of Biomedical Sciences, College of Veterinary Medicine, The University of Missouri, Columbia, MO, USA.

 PMID: 34704592

 DOI: 10.1242/dmm.049006

Keywords: Canine; Contraction kinetics; DMD; Dystrophin; Fiber type; New method.

34. Neuromuscul Disord . 2021 Sep 25;S0960-8966(21)00653-2. Online ahead of print.

The impact of testosterone therapy on quality of life in adolescents with Duchenne muscular dystrophy

C L Wood¹, J Page², J Foggin³, M Guglieri⁴, V Straub⁴, T D Cheetham⁵

 ¹ Translational and Clinical Research Institute, Newcastle University UK; Department of Paediatric Endocrinology, Newcastle upon Tyne Hospitals NHS Foundation Trust UK. Electronic address: Claire.wood@ncl.ac.uk.

 ² John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust UK.

 ³ Department of Paediatric Endocrinology, Newcastle upon Tyne Hospitals NHS Foundation Trust UK.

 ⁴ Translational and Clinical Research Institute, Newcastle University UK; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust UK.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

 ⁵ Translational and Clinical Research Institute, Newcastle University UK; Department of Paediatric Endocrinology, Newcastle upon Tyne Hospitals NHS Foundation Trust UK.

 PMID: 34702655

 DOI: 10.1016/j.nmd.2021.09.007

Keywords: Duchenne muscular dystrophy: Puberty; Quality of life; Short stature; Testosterone.

35. Circulation . 2021 Oct 26. doi: 10.1161/CIRCULATIONAHA.121.054628. Online ahead of print.

Therapeutic Exon Skipping via a CRISPR-guided Cytidine Deaminase Rescues Dystrophic Cardiomyopathy In Vivo

Jia Li¹, Kaiying Wang¹, Yuchen Zhang¹, Tuan Qi², Juanjuan Yuan³, Lei Zhang¹, Han Qiu⁴, Jinxi Wang⁵, Huang- Tian Yang⁵, Yi Dai⁶, Yan Song⁷, Xing Chang¹

 ¹ Key Laboratory of Growth Regulation and Translational Research of Zhejiang Province, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China; Center for Infectious Disease Research, Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China; Joint Research Center of Hangzhou First Hospital Group and Westlake University, Westlake University, Hangzhou, Zhejiang, China; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China.

 ² Key Laboratory of Growth Regulation and Translational Research of Zhejiang Province, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China; Center for Infectious Disease Research, Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China; Shanghai Jiao Tong University School of Medicine (SJTUSM), Shanghai, 200031, China; Joint Research Center of Hangzhou First Hospital Group and Westlake University, Westlake University, Hangzhou, Zhejiang, China; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China.

 ³ Shunde Hospital, Southern Medical University (The First People 's Hospital of Shunde), Foshan City, Guangdong Province, 528308, China.

 ⁴ Key Laboratory of Growth Regulation and Translational Research of Zhejiang Province, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China; Center for Infectious Disease Research, Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China; Shunde Hospital, Southern Medical University (The First People's Hospital of Shunde), Foshan City, Guangdong Province, 528308, China; CAS Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China.

 ⁵ CAS Key Laboratory of Tissue Microenvironment and Tumor, Laboratory of Molecular Cardiology, Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Shanghai 200031, China; CAS Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China.

 ⁶ Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, 100730, China.

 ⁷ Department of Cellular and Molecular Medicine, University of California at San Diego, La Jolla, CA.

 PMID: 34698513

 DOI: 10.1161/CIRCULATIONAHA.121.054628

36. Curr Issues Mol Biol . 2021 Sep 25;43(3):1267-1281. doi: 10.3390/cimb43030090.

Renadirsen, a Novel 2'OMeRNA/ENA ^® Chimera Antisense Oligonucleotide, Induces Robust Exon 45 Skipping for Dystrophin In Vivo

Kentaro Ito¹, Hideo Takakusa², Masayo Kakuta³, Akira Kanda¹, Nana Takagi⁴, Hiroyuki Nagase¹, Nobuaki Watanabe², Daigo Asano², Ryoya Goda², Takeshi Masuda⁵, Akifumi Nakamura⁵, Yoshiyuki Onishi⁵, Toshio Onoda⁶, Makoto Koizumi⁵, Yasuhiro Takeshima⁷, Masafumi Matsuo⁸, Kiyosumi Takaishi¹

 ¹ Specialty Medicine Research Laboratories I, Daiichi Sankyo Co., Ltd., Shinagawa, Tokyo 1408710, Japan.

 ² Drug Metabolism and Pharmacokinetics Research Laboratories, Daiichi Sankyo Co., Ltd., Shinagawa, Tokyo 1408710, Japan.

 ³ Medical Information Department, Daiichi Sankyo Co., Ltd., Chuo, Tokyo 1038426, Japan.

 ⁴ Safety and Risk Management Department, Daiichi Sankyo Co., Ltd., Chuo, Tokyo 1038426, Japan.

 ⁵ Modality Research Laboratories, Daiichi Sankyo Co., Ltd., Shinagawa, Tokyo 1409710, Japan.

 ⁶ Intellectual Property Department, Daiichi Sankyo Co., Ltd., Shinagawa, Tokyo 1409710, Japan.

 ⁷ Department of Pediatrics, Hyogo College of Medicine, Nishinomiya 6638501, Japan.

 ⁸ Research Center for Locomotion Biology, Kobe Gakuin University, Nishi, Kobe 6512180, Japan.

 PMID: 34698059

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

 DOI: 10.3390/cimb43030090

Keywords: 2′-O,4′-C-ethylene-bridged nucleic acid (ENA); Duchenne muscular dystrophy; antisense oligonucleotide;

cardiac muscle; dystrophin; exon skipping; renadirsen sodium.

37. J Comp Eff Res . 2021 Oct 25. doi: 10.2217/cer-2021-0018. Online ahead of print.

Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy

Perry B Shieh¹, Gary Elfring², Panayiota Trifillis², Claudio Santos², Stuart W Peltz², Julie A Parsons³, Susan Apkon³, Basil T Darras⁴, Craig Campbell⁵, Craig M McDonald⁶, Members of the Ataluren Phase IIb Study Group

†; Members of the Ataluren Phase IIb Study Clinical Evaluator Training Group ‡; Members of the ACT DMD Study Group

¶; Members of the ACT DMD Clinical Evaluator Training Group § Collaborators

 Richard J Barohn, Enrico Bertini, Kate Bushby, Brigitte Chabrol, Emma Ciafaloni, Jaume Columer, Giacomi Pietro Comi, Anne Connolly, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Michela Guglieri, Susan T

Iannaccone, Kristi J Jones, Petra Kaufmann, Janbernd Kirschner, Jean K Mah, Katherine Mathews, Eugenio Mercuri, Francesco Muntoni, Yoram Nevo, Andrés Nascimento Osorio, Yann Péréon, Rosaline Quinlivan, J Ben Renfroe, Barry Russman, Monique Ryan, Jacinda Sampson, Ulrike Schara, Kathryn Selby, Thomas

Sejersen, Douglas M Sproule, H Lee Sweeney, Már Tulinius, Juan J Vilchez, Giuseppe Vita, Thomas Voit, Stephanie Burns-Wechsler, Brenda Wong, Ted Abresch, Erik K Henricson, Kim Coleman, Michelle Eagle, Julaine Florence, Ed Gappmaier, Craig McDonald, Hoda Z Abdel-Hamid, Richard J Barohn, Enrico Bertini, Clemens Bloetzer, Kate Bushby, Russell J Butterfield, Brigitte Chabrol, Jong-Hee Chae, Giacomi Pietro Comi, Jahannaz Dastgir, Isabelle Desguerre, Raul G Escobar, Erika Finanger, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Michela Guglieri, Peter Heydemann, Imelda Hughes, Susan T Iannaccone, Kristi J Jones, Anna Kaminska, Peter Karachunski, Janbernd Kirschner, Martin Kudr, Timothy Lotze, Jean K

Mah, Katherine Mathews, Eugenio Mercuri, Francesco Muntoni, Yoram Nevo, Andrés Nascimento Osorio, Yann Péréon, Alexandra Prufer de Queiroz Campos Araujo, J Ben Renfroe, Maria Bernadete Dutra de

Resende, Monique Ryan, Jacinda Sampson, Ulrike Schara, Kathryn Selby, Thomas Sejersen, H Lee

Sweeney, Gihan Tennekoon, Haluk Topaloglu, Ricardo Erazo Torricelli, Már Tulinius, Juan J Vilchez, Giuseppe Vita, Thomas Voit, Brenda Wong, Lindsay N Alfano, Michelle Eagle, Meredith K James, Linda Lowes, Anna Mayhew, Elena S Mazzone, Leslie Nelson, Kristy J Rose

 ¹ University of California at Los Angeles, Los Angeles, CA, USA.

 ² PTC Therapeutics, Inc., South Plainfield, NJ, USA.

 ³ University of Colorado School of Medicine, Aurora, CO, USA.

 ⁴ Boston Children's Hospital, Boston, MA, USA.

 ⁵ Children's Hospital - London Health Sciences Centre, University of Western Ontario, London, ON, Canada.

 ⁶ University of California Davis Health, Sacramento, CA, USA.

 PMID: 34693725

 DOI: 10.2217/cer-2021-0018

Keywords: Duchenne muscular dystrophy; deflazacort; meta-analysis; nonsense mutation Duchenne muscular dystrophy;

prednisolone; prednisone.

38. BMC Endocr Disord . 2021 Oct 24;21(1):214. doi: 10.1186/s12902-021-00876-6.

A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report

Asanka Rathnasiri¹, Udara Senarathne², Visvalingam Arunath¹, Thabitha Hoole¹, Ishara Kumarasiri¹, Oshanie Muthukumarana¹, Eresha Jasinge³, Sachith Mettananda^{4 5}

 ¹ Colombo North Teaching Hospital, Ragama, Sri Lanka.

 ² Department of Biochemistry, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, Sri Lanka.

 ³ Lady Ridgeway Children's Hospital, Colombo 08, Colombo, Sri Lanka.

 ⁴ Colombo North Teaching Hospital, Ragama, Sri Lanka. sachith.mettananda@kln.ac.lk.

 ⁵ Department of Paediatrics, Faculty of Medicine, University of Kelaniya, Thalagolla Raod, Ragama, Sri Lanka.

sachith.mettananda@kln.ac.lk.

 PMID: 34689766

 DOI: 10.1186/s12902-021-00876-6

Keywords: Congenital adrenal hypoplasia; Contiguous gene deletion syndrome; Duchenne muscular dystrophy; Glycerol kinase deficiency.