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° 2021-05-1 du 23 avril 2021 au 06 mai 2021 (April 23 to May 6, 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 ... 3

Amyotrophies spinales – Spinal amyotrophies ... 3

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

Anoctaminopathies – Anoctaminopathies ... 8

Canalopathies musculaires – Muscular channelopathies... 8

Dystrophies musculaires congénitales – Congenital muscular dystrophies ... 8

Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies ... 9

Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ... 9

Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ... 18

Dysferlinopathies – Dysferlinopathies ... 19

Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 19 Dystrophies myotoniques – Myotonic dystrophies ... 20

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

Laminopathies – Laminopathies ... 23

Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ... 24

Myasthénie autoimmune – Myasthenia gravis ... 27

Myopathies congénitales – Congenital myopathies ... 30

Myopathies distales – Distal myopathies ... 32

Myopathies liées à GNE – GNE myopathies ... 33

Myopathies liées à PYROXD1 – PYROXD1 related myopathies ... 33

Myopathies inflammatoires – Inflammatory myopathies ... 34

Maladie de Pompe – Pompe disease ... 45

Myopathies métaboliques – Metabolic myopathies ... 46

Lipidoses musculaires – Lipid myopathies ... 47

Myopathies mitochondriales – Mitochondrial myopathies ... 48

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Myopathies avec surcharge en filaments ou à inclusions – Myopathies with excess of filaments or

inclusions ... 49

Myosinopathies – Myosinopathies ... 50

Myotonies congénitales – Congenital myotonia ... 50

Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) ... 51

Maladies du motoneurone (plusieurs pathologies) – Motor neuron diseases (Multiple) ... 51

Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ... 52

Divers – Miscellaneous ... 55

Sommaire par specialités / specialties

Anatomopathologie – Anatomical pathology ... 57

Cardiologie – Cardiology ... 58

Douleur – Pain ... 60

Électromyographie – Electromyography ... 61

Gastroentérologie / Nutrition – Gastroenterology / Nutrition ... 61

Imagerie médicale – Medical imaging ... 62

Médecine physique et de réadaptation – Physical and rehabilitation medicine ... 64

Nephrologie – Nephrology ... 65

Ophtalmologie – Ophthalmology ... 66

Pneumologie – Pulmonogy ... 66

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

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

1. Medicine (Baltimore). 2021 May 7;100(18):e25701. doi: 10.1097/MD.0000000000025701.

A case report of COVID-19 in refractory myasthenia: Outcome with remdesivir and dexamethasone Sachin M Bhagavan¹, Swathi Beladakere Ramaswamy, Raghav Govindarajan

• ¹Department of Neurology, University of Missouri Health Care, Missouri.

• PMID: 33950951

• PMCID: PMC8104252

• DOI: 10.1097/MD.0000000000025701

2. Acta Neurol Scand. 2021 Apr 29. doi: 10.1111/ane.13440. Online ahead of print.

Myasthenia gravis and COVID-19: A case series and comparison with literature

Zakaria Saied^{1 2 3}, Amine Rachdi^{1 2 3}, Saber Thamlaoui^{2 3 4}, Fatma Nabli^{1 2 3}, Cyrine Jeridi^{1 2 3}, Nader Baffoun^{2 3 4}, Chokri Kaddour^{2 3 4}, Samir Belal^{1 2 3}, Samia Ben Sassi^{1 2 3}

• ¹Neurology Department, National Institute Mongi Ben Hamida of Neurology, Tunis, Tunisia.

• ²Intensive Care Unit, National Institute Mongi Ben Hamida of Neurology, Tunis, Tunisia.

• ³Neuropathology and Neurobiology Laboratory, National Institute Mongi Ben Hamida of Neurology, Tunis, Tunisia.

• ⁴Department of Neuroscience, Medical School of Tunis, University of Tunis-Almanar, Tunis, Tunisia.

• PMID: 33914898

• DOI: 10.1111/ane.13440

Keywords: COVID-19; SARS; myasthenia gravis; myasthenic crisis.

Amyotrophies bulbospinales – Bulbospinal amyotrophies

3. Case Reports

Turk J Pediatr . 2021;63(2):314-318.doi: 10.24953/turkjped.2021.02.016.

Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders

Berna Şeker Yılmaz, Serdar Ceylaner¹, Neslihan Önenli Mungan²

• ¹ Department of Genetics, Intergen Genetics Centre, Ankara.

• ² Department of Pediatric Metabolism, Çukurova University Faculty of Medicine, Adana, Turkey.

• PMID: 33929122

• DOI: 10.24953/turkjped.2021.02.016

Keywords: Brown-Vialetto-Van Laere syndrome; left ventricle-non compaction; mitochondrial disorders; riboflavin.

Amyotrophies spinales – Spinal amyotrophies

4. Case Reports

Am J Med Genet A . 2021 May 1. doi: 10.1002/ajmg.a.62219. Online ahead of print.

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

Kristen K Rosano¹, Daniel J Wegner¹, Marwan Shinawi², Dustin Baldridge², Robert C Bucelli³, Sonika Dahiya⁴ , Frances V White⁴, Marcia C Willing², William McAllister⁵, Ryan J Taft⁶, Krista Bluske⁶, Amanda Buchanan⁶ , Francis Sessions Cole¹, Jennifer A Wambach¹

• ¹ Division of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

• ² Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

• ³ Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.

• ⁴ Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.

• ⁵ Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Missouri, USA.

• ⁶ Illumina, Inc., San Diego, California, USA.

• PMID: 33931933

• DOI: 10.1002/ajmg.a.62219

Keywords: AMC; ASCC1; SMABF2; arthrogryposis; arthrogryposis multiplex congenita; spinal muscular atrophy with congenital bone fractures 2

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

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

5. BMC Med Ethics . 2021 May 4;22(1):54. doi: 10.1186/s12910-021-00623-5.

Priority setting at the clinical level: the case of nusinersen and the Norwegian national expert group Morten Magelssen¹, Magnhild Rasmussen^{2 3}, Sean Wallace^{2 3}, Reidun Førde⁴

• ¹ Centre for Medical Ethics, Institute of Health and Society, University of Oslo, Pb. 1130 Blindern, 0318, Oslo, Norway. morten.magelssen@medisin.uio.no.

• ² Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway.

• ³ Unit for Congenital and Hereditary Neuromuscular Disorders, Department of Neurology, Oslo University Hospital, Oslo, Norway.

• ⁴ Centre for Medical Ethics, Institute of Health and Society, University of Oslo, Pb. 1130 Blindern, 0318, Oslo, Norway.

• PMID: 33947377

• DOI: 10.1186/s12910-021-00623-5

Keywords: Bedside rationing; Norway; Nusinersen; Priority setting; Rationing; Resource allocation; Spinal muscular atrophy.

6. Front Neurol . 2021 Apr 16;12:650532. doi: 10.3389/fneur.2021.650532. eCollection 2021.

Safety, Tolerability, and Effect of Nusinersen in Non-ambulatory Adults With Spinal Muscular Atrophy Bakri Elsheikh¹, Steven Severyn², Songzhu Zhao³, David Kline³, Matthew Linsenmayer⁴, Kristina Kelly¹, Marco Tellez¹, Amy Bartlett¹, Sarah Heintzman¹, Jerry Reynolds¹, Gary Sterling¹, Tristan Weaver², Kiran Rajneesh¹ , Stephen J Kolb¹, W David Arnold¹

• ¹ Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, United States.

• ² Department of Anesthesiology, The Ohio State University Wexner Medical Center, Columbus, OH, United States.

• ³ Department of Biomedical Informatics and Center for Biostatistics, The Ohio State University, Columbus, OH, United States.

• ⁴ Assistive Technology Department, The Ohio State University Wexner Medical Center, Columbus, OH, United States.

• PMID: 33935949

• DOI: 10.3389/fneur.2021.650532

Keywords: MUNE; SMA; adults; non-ambulatory; nusinersen; safety.

7. Review

Semin Pediatr Neurol . 2021 Apr;37:100878. doi: 10.1016/j.spen.2021.100878. Epub 2021 Feb 11.

Spinal Muscular Atrophy

Stefan Nicolau¹, Megan A Waldrop², Anne M Connolly², Jerry R Mendell²

• ¹ Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH. Electronic address: Stefan.nicolau@nationwidechildrens.org.

• ² Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Ohio State University, Columbus, OH.

• PMID: 33892848

• DOI: 10.1016/j.spen.2021.100878

8. Case Reports

Clin Case Rep . 2021 Feb 12;9(4):1925-1928. doi: 10.1002/ccr3.3905. eCollection 2021 Apr.

Tailoring NIV by dynamic laryngoscopy in a child with spinal muscular atrophy type I Maria Vollsæter 1 2 3 , Anett Skjoldmo⁴, Ola Røksund 1 5 6 , Magnus Hilland⁶, Tiina Andersen 3 4 5

• ¹ Department of Pediatrics Haukeland University Hospital Bergen Norway.

• ² Department of Clinical Science University of Bergen Bergen Norway.

• ³ Norwegian Advisory Unit for Home Mechanical Ventilation Thoracic Department Haukeland University Hospital Bergen Norway.

• ⁴ Department of Physiotherapy Haukeland University Hospital Bergen Norway.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ⁵ Faculty of Health and Social Sciences Western Norway University of Applied Sciences Bergen Norway.

• ⁶ Department of Head and Neck surgery ENT Haukeland University Hospital Bergen Norway.

• PMID: 33936616

• DOI: 10.1002/ccr3.3905

Keywords: ear nose and throat; neurology; pediatrics; respiratory medicine.

9. Proc Natl Acad Sci U S A . 2021 May 4;118(18):e2007785118. doi: 10.1073/pnas.2007785118.

Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy

Niko Hensel^{1 2}, Federica Cieri^{3 4}, Pamela Santonicola³, Ines Tapken^{5 2}, Tobias Schüning^{5 2}, Michela Taiana⁶ , Elisa Pagliari⁶, Antonia Joseph⁵, Silke Fischer⁵, Natascha Heidrich⁵, Hella Brinkmann⁵, Sabrina Kubinski^{5 2}, Anke K Bergmann⁷, Manuela F Richter⁸, Klaus Jung^{2 9}, Stefania Corti^{6 10}, Elia Di Schiavi³, Peter Claus^{5 2}

• ¹ Institute of Neuroanatomy and Cell Biology, Hannover Medical School, Hannover 30625, Germany; n- hensel@web.de.

• ² Center for Systems Neuroscience, Hannover 30559, Germany.

• ³ Institute of Biosciences and BioResources, National Research Council, Naples 80131, Italy.

• ⁴ Department of Biology, University of Naples Federico II, Naples 80126, Italy.

• ⁵ Institute of Neuroanatomy and Cell Biology, Hannover Medical School, Hannover 30625, Germany.

• ⁶ Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Centre, University of Milan, Milan 20122, Italy.

• ⁷ Institute of Human Genetics, Hannover Medical School, Hannover 30625, Germany.

• ⁸Department of Neonatology, Children's and Youth Hospital Auf der Bult, Hannover 30173, Germany.

• ⁹ Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover 30559, Germany.

• ¹⁰ Neurology Unit, Foundation Istituto di Ricovero e Cura a Carattere Scientifico Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.

• PMID: 33931501

• DOI: 10.1073/pnas.2007785118

Keywords: 14-3-3; Raf; SMA; neurotrophic signaling; spinal muscular atrophy.

10. Int J Mol Sci . 2021 Apr 21;22(9):4329. doi: 10.3390/ijms22094329.

Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients

Laura Bianchi¹, Maria Sframeli², Lorenza Vantaggiato¹, Gian Luca Vita², Annamaria Ciranni³, Francesca Polito³ , Rosaria Oteri³, Eloisa Gitto⁴, Fabrizio Di Giuseppe⁵, Stefania Angelucci⁵, Antonio Versaci⁶, Sonia Messina³ , Giuseppe Vita^{2 3}, Luca Bini¹, M'hammed Aguennouz³

• ¹ Functional Proteomics Laboratory, Department of Life Sciences, University of Siena, 53100 Siena, Italy.

• ² Nemo Sud Clinical Centre, 98125 Messina, Italy.

• ³ Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.

• ⁴ Neonatal and Paediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age, University of Messina, 98125 Messina, Italy.

• ⁵ Dentistry and Biotechnology, and Proteomics Unit, Centre of Advanced Studies and Technoloy, Department Medical, Oral & Biotechnological Sciences, "G. d'Annunzio", University of Chieti-Pescara, 66100 Chieti, Italy.

• ⁶ Intensive Care Unit, AOU Policlinico "G. Martino", 98125 Messina, Italy.

• PMID: 33919289

• DOI: 10.3390/ijms22094329

Keywords: ASO; apolipoprotein A1; apolipoprotein E; carbonyl groups; haptoglobin; neuromuscular disease; nusinersen;

oxidized proteins; spinal muscular atrophy type 1; survival motor neuron (SMN); transthyretin.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-05-1 du 23 avril 2021 au 06 mai 2021 (April 23 to May 6, 2021) 11. Sci Rep . 2021 Apr 28;11(1):9158. doi: 10.1038/s41598-021-88559-z.

Prenatal transplantation of human amniotic fluid stem cell could improve clinical outcome of type III spinal muscular atrophy in mice

Steven W Shaw # 1 2 3 , Shao-Yu Peng^{# 4}, Ching-Chung Liang⁵, Tzu-Yi Lin⁶, Po-Jen Cheng^{6 5}, T'sang-T'ang Hsieh^{6 7}, Hao-Yu Chuang^{8 9}, Paolo De Coppi^{10 11}, Anna L David¹²

• ¹ College of Medicine, Chang Gung University, Taoyuan, 333, Taiwan. dr.shaw@me.com.

• ² Department of Obstetrics and Gynecology, Taipei Chang Gung Memorial Hospital, No. 199, Dun-Hua North Road, Taipei, 105, Taiwan. dr.shaw@me.com.

• ³Prenatal Cell and Gene Therapy Group, Elizabeth Garrett Anderson Institute for Women's Health, University College London, London, WC1E 6HU, UK. dr.shaw@me.com.

• ⁴ Department of Animal Science, National Pingtung University of Science and Technology, Pingtung, 912, Taiwan.

• ⁵ Department of Obstetrics and Gynecology, Linkou Chang Gung Memorial Hospital, 333, Taoyuan, Taiwan.

• ⁶ College of Medicine, Chang Gung University, Taoyuan, 333, Taiwan.

• ⁷ Department of Obstetrics and Gynecology, Taipei Chang Gung Memorial Hospital, No. 199, Dun-Hua North Road, Taipei, 105, Taiwan.

• ⁸ Division of Neurosurgery, Tainan Municipal An-Nan Hospital, Tainan, 709, Taiwan.

• ⁹ Cell Therapy Center, Tainan Municipal An-Nan Hospital, Tainan, 709, Taiwan.

• ¹⁰ Stem Cells and Regenerative Medicine Section, Institute of Child Health, University College London, London, WC1N 1EH, UK.

• ¹¹ Great Ormond Street Hospital NHS Trust, London, WC1N 1EH, UK.

• ¹²Prenatal Cell and Gene Therapy Group, Elizabeth Garrett Anderson Institute for Women's Health, University College London, London, WC1E 6HU, UK.

# Contributed equally.

• PMID: 33911155

• DOI: 10.1038/s41598-021-88559-z

12. J Neurol . 2021 Apr 25. doi: 10.1007/s00415-021-10569-8. Online ahead of print.

Nusinersen treatment in adult patients with spinal muscular atrophy: a safety analysis of laboratory parameters

Benjamin Stolte^{1 2}, Michael Nonnemacher³, Kathrin Kizina^{1 2}, Saskia Bolz^{1 2}, Andreas Totzeck^{1 2}, Andreas Thimm^{1 2}, Bernd Wagner⁴, Cornelius Deuschl^{5 2}, Christoph Kleinschnitz^{1 2}, Tim Hagenacker^{6 7}

• ¹ Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147, Essen, Germany.

• ² Center for Translational and Behavioral Neuroscience, University Hospital Essen, Essen, Germany.

• ³ Institute for Medical Informatics, Biometrics and Epidemiology, University Hospital Essen, Essen, Germany.

• ⁴ Department of Clinical Chemistry, University Hospital Essen, Essen, Germany.

• ⁵ Institute for Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany.

• ⁶ Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147, Essen, Germany.

tim.hagenacker@uk-essen.de.

• ⁷ Center for Translational and Behavioral Neuroscience, University Hospital Essen, Essen, Germany.

tim.hagenacker@uk-essen.de.

• PMID: 33899154

• DOI: 10.1007/s00415-021-10569-8

Keywords: ASO; Coagulation; Kidney; Liver; Platelets; Side effects; Toxicity.

13. Proteomics . 2021 Apr 24;e2000301. doi: 10.1002/pmic.202000301. Online ahead of print.

Label-free quantitative proteomic analysis of extracellular vesicles released from fibroblasts derived from patients with spinal muscular atrophy

Justin Roberto¹, Kathy L Poulin², Robin J Parks², Panayiotis O Vacratsis¹

• ¹ Department of Chemistry and Biochemistry, University of Windsor, Windsor, Ontario, N9B 3P4, Canada.

• ² Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, K1H 8L6, Canada.

• PMID: 33893753

• DOI: 10.1002/pmic.202000301

Keywords: data independent acquisition; extracellular vesicles; ion mobility; label-free proteomics; spinal muscular atrophy.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

14. Brain Dev . 2021 Apr 20;S0387-7604(21)00063-2. doi: 10.1016/j.braindev.2021.03.006. Online ahead of print.

Phenotypes of SMA patients retaining SMN1 with intragenic mutation

Yogik Onky Silvana Wijaya¹, Mawaddah Är Rochmah², Emma Tabe Eko Niba³, Naoya Morisada⁴, Yoriko Noguchi⁵ , Yasufumi Hidaka⁶, Shiro Ozasa⁷, Takeshi Inoue⁸, Tomoyuki Shimazu⁹, Yuya Takahashi¹⁰, Takenori Tozawa¹¹ , Tomohiro Chiyonobu¹², Takushi Inoue¹³, Tomoyoshi Shiroshita¹⁴, Atsushi Yokoyama¹⁵, Kentaro Okamoto¹⁶ , Hiroyuki Awano¹⁷, Yasuhiro Takeshima¹⁸, Toshio Saito¹⁹, Kayoko Saito²⁰, Hisahide Nishio²¹, Masakazu Shinohara²²

• ¹ Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: yogik.onky@gmail.com.

• ² Department of Neurology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia. Electronic address: mawaddah.arr@gmail.com.

• ³ Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: niba@med.kobe-u.ac.jp.

• ⁴ Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan. Electronic address:

morisada_kch@hp.pref.hyogo.jp.

• ⁵ Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan. Electronic address:

ynoguchi@med.kobe-u.ac.jp.

• ⁶ Department of Pediatrics, Kitakyushu Municipal Medical Center, Kitakyushu, Japan. Electronic address:

hidaka2000@gmail.com.

• ⁷ Department of Pediatrics, Kumamoto University, Kumamoto, Japan. Electronic address: ozasas@kumamoto- u.ac.jp.

• ⁸ Department of Neonatology, Kumamoto City Hospital, Kumamoto, Japan. Electronic address:

inoue.takeshi@cityhosp-kumamoto.jp.

• ⁹ Department of Pediatrics, National Hospital Organization Kumamoto Saishunso Hospital, Kumamoto, Japan.

Electronic address: t-shima@kg7.so-net.ne.jp.

• ¹⁰ Department of Pediatrics, Nagaoka Red Cross Hospital, Nagaoka, Japan. Electronic address:

yuy.takahashi@gmail.com.

• ¹¹ Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. Electronic address:

takenori@koto.kpu-m.ac.jp.

• ¹² Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. Electronic address:

chiyono@koto.kpu-m.ac.jp.

• ¹³ Department of Pediatrics, National Hospital Organization Okayama Medical Center, Okayama, Japan.

Electronic address: takushi.1975.i@gmail.com.

• ¹⁴ Faculty of Medical Rehabilitation, Kobe Gakuin University, Kobe, Japan. Electronic address:

sirosita@reha.kobegakuin.ac.jp.

• ¹⁵ Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address:

atsushiy@kuhp.kyoto-u.ac.jp.

• ¹⁶ Department of Pediatrics, Ehime Prefectural Imabari Hospital, Imabari, Japan. Electronic address:

kentaro206@gmail.com.

• ¹⁷ Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address:

awahiro@med.kobe-u.ac.jp.

• ¹⁸ Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan. Electronic address: ytake@hyo- med.ac.jp.

• ¹⁹ Division of Child Neurology, Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan. Electronic address: saitot@toneyama.go.jp.

• ²⁰ Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address:

saito.kayoko@twmu.ac.jp.

• ²¹ Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan; Faculty of Medical Rehabilitation, Kobe Gakuin University, Kobe, Japan. Electronic address: nishio@reha.kobegakuin.ac.jp.

• ²² Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: mashino@med.kobe-u.ac.jp.

• PMID: 33892995

• DOI: 10.1016/j.braindev.2021.03.006

Keywords: Intragenic mutation; Long-range PCR; RT-PCR; SMN1; SMN2; Spinal muscular atrophy.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Anoctaminopathies – Anoctaminopathies

15. Cell Calcium . 2021 Apr 27;97:102415. doi: 10.1016/j.ceca.2021.102415. Online ahead of print.

ANO5 in membrane repair - Status: "It's complicated"

Volker Gerke¹, Ursula Rescher²

• ¹ Institute of Medical Biochemistry, Center for Molecular Biology of Inflammation (ZMBE) and Cells in Motion Interfaculty Center (CiM), University of Muenster, Muenster, Germany. Electronic address: gerke@uni- muenster.de.

• ² Research Group Regulatory Mechanisms of Inflammation, Center for Molecular Biology of Inflammation (ZMBE) and Cells in Motion Interfaculty Center (CiM), University of Muenster, Muenster, Germany. Electronic address:

rescher@uni-muenster.de.

• PMID: 33934044

• DOI: 10.1016/j.ceca.2021.102415

Keywords: Annexins; Anoctamin 5; Calcium-activated chloride channel; Muscle cell; Muscular dystropy; Sarcolemma repair.

Canalopathies musculaires – Muscular channelopathies

16. Case Reports

Air Med J . May-Jun 2021;40(3):185-187. doi: 10.1016/j.amj.2020.12.008. Epub 2021 Jan 19.

Field Diagnosis and Treatment of Hypokalemic Periodic Paralysis by a Helicopter Emergency Medical Services Team

Mitchell D Datlow¹, Richard B Utarnachitt², Colleen Records³, Wynn Vance³, Andrew J Latimer²

• ¹ Airlift Northwest, Seattle, WA; Harborview Medical Center, University of Washington, Department of Emergency Medicine, Seattle, WA. Electronic address: mdatlow@uw.edu.

• ² Airlift Northwest, Seattle, WA; Harborview Medical Center, University of Washington, Department of Emergency Medicine, Seattle, WA.

• ³ Airlift Northwest, Seattle, WA.

• PMID: 33933224

• DOI: 10.1016/j.amj.2020.12.008 No abstract available

Dystrophies musculaires congénitales – Congenital muscular dystrophies

17. Genes Cells . 2021 Apr 23. doi: 10.1111/gtc.12853. Online ahead of print.

The structure of POMGNT2 provides new insights into the mechanism to determine the functional O- mannosylation site on α-dystroglycan

Rieko Imae¹, Naoyuki Kuwabara^{2 3}, Hiroshi Manya¹, Tomohiro Tanaka⁴, Masato Tsuyuguchi², Mamoru Mizuno⁴ , Tamao Endo¹, Ryuichi Kato¹

• ¹ Molecular Glycobiology, Research Team for Mechanism of Aging, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Itabashi-ku, Tokyo, 173-0015, Japan.

• ² High Energy Accelerator Research Organization (KEK), Institute of Materials Structure Science, Structural Biology Research Center, 1-1 Oho, Tsukuba, Ibaraki, 305-0801, Japan.

• ³ PeptiDream Inc, Tonomachi Kawasaki, Kanagawa, 210-0821, Japan.

• ⁴ Laboratory of Glyco-organic Chemistry, The Noguchi Institute, Itabashi-ku, Tokyo, 173-0003, Japan.

• PMID: 33893702

• DOI: 10.1111/gtc.12853

Keywords: Core M3; Fibronectin type III domain; Glycosyltransferase; Muscular dystrophy; α-Dystroglycanopathy.

18. Case Reports

Braz J Anesthesiol. 2021Apr 22;S0104-0014(21)00149-4. doi: 10.1016/j.bjane.2021.03.018. Online ahead of print.

A difficult airway approach in a merosin-deficient congenital muscular dystrophy patient - a case report

Jorge Pelicano Paulos¹, Vanessa Artilheiro², Catarina Cruz³, Ana Pinto Carneiro⁴

• ¹ Centro Hospitalar Universitário Lisboa Central, Hospital Dona Estefânia, Anesthesiology Department, Lisbon, Portugal. Electronic address: pelicanopaulos@gmail.com.

• ² Centro Hospitalar de Lisboa Ocidental, Anesthesiology Department, Lisbon, Portugal.

• ³ Hospital de Cascais, Anesthesiology Department, Cascais, Portugal.

• ⁴ Centro Hospitalar Universitário Lisboa Central, Hospital Dona Estefânia, Anesthesiology Department, Lisbon, Portugal.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• PMID: 33895222

• DOI: 10.1016/j.bjane.2021.03.018

Keywords: Airway management; Intravenous anesthesia; Muscular dystrophy congenital, merosin negative; Orthopedics;

Pediatrics.

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

19. Biomolecules . 2021 Apr 6;11(4):538. doi: 10.3390/biom11040538.

Role of Cdkn2a in the Emery-Dreifuss Muscular Dystrophy Cardiac Phenotype

Gloria Pegoli¹, Marika Milan¹, Pierluigi Giuseppe Manti², Andrea Bianchi¹, Federica Lucini^{1 3}, Philina Santarelli¹ , Claudia Bearzi^{1 4}, Roberto Rizzi^{1 5}, Chiara Lanzuolo^{1 5}

• ¹Istituto Nazionale di Genetica Molecolare Romeo ed Enrica Invernizzi, 20122 Milan, Italy.

• ² Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy.

• ³ FIRC Institute of Molecular Oncology, 20139 Milan, Italy.

• ⁴Consiglio Nazionale delle Ricerche (CNR), Istituto di Ricerca Genetica e Biomedica, 20138 Milan, Italy.

• ⁵ Consiglio Nazionale delle Ricerche (CNR), Institute of Biomedical Technologies (ITB), 20054 Milan, Italy.

• PMID: 33917623

• DOI: 10.3390/biom11040538

Keywords: Cdkn2a locus; Emery–Dreifuss muscular dystrophy; Lamin A/C; cellular senescence; dilated cardiomyopathy;

heart; p16INK4a.

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

20. J Clin Endocrinol Metab . 2021 May 6;dgab302. doi: 10.1210/clinem/dgab302. Online ahead of print.

Randomised controlled trial evaluating the use of Zoledronic acid in Duchenne Muscular Dystrophy Margaret Zacharin 1 2 3 , Angelina Lim 1 3 4 , James Gryllakis¹, Aris Siafarikas 5 6 7 8 , Craig Jefferies⁹, Julie Briody¹⁰ , Natasha Heather⁹, Janne Pitkin^{1 3}, Jaiman Emmanuel¹¹, Katherine J Lee¹, Xiaofang Wang¹, Peter J Simm 1 2 3

, Craig F Munns^{12 13}

• ¹ Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Rd, Parkville 3052, Victoria, Australia.

• ² Department of Pediatrics, University of Melbourne, Parkville 3052, Victoria, Australia.

• ³ Department of Endocrinology, Royal Children's Hospital, 50 Flemington Rd, Parkville 3052, Victoria, Australia.

• ⁴ Centre for Medicine Use and Safety, Monash University, Parkville 3052, Australia.

• ⁵ Department of Endocrinology and Diabetes, Perth Children's Hospital, Perth, Western Australia.

• ⁶ Faculty of Health and Medical Sciences, Paediatrics, The University of Western Australia, Nedlands, Western Australia, Australia.

• ⁷ Institute for Health Research, University of Notre Dame, Fremantle, Western Australia, Australia.

• ⁸ Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.

• ⁹ Starship Children's health, Auckland NZ, and Liggins institute, university of Auckland.

• ¹⁰ Department of Nuclear Medicine, Children's Hospital at Westmead, Sydney, Australia.

• ¹¹ Department of Radiology, Royal Children's Hospital, 50 Flemington Rd, Parkville 3052, Victoria, Australia.

• ¹² Department of Endocrinology, Children's Hospital at Westmead, Sydney, Australia.

• ¹³ Discipline of Paediatrics & Child Health, University of Sydney, Sydney, 2006, Australia.

• PMID: 33954789

• DOI: 10.1210/clinem/dgab302

Keywords: Duchenne; Zoledronic acid; bisphosphonate; bone density; glucocorticoid.

21. ACS Chem Neurosci . 2021 May 5. doi: 10.1021/acschemneuro.0c00794. Online ahead of print.

In Vivo Fiber Optic Raman Spectroscopy of Muscle in Preclinical Models of Amyotrophic Lateral Sclerosis and Duchenne Muscular Dystrophy

Maria Plesia¹, Oliver A Stevens², Gavin R Lloyd^{3 4}, Catherine A Kendall⁴, Ian Coldicott¹, Aneurin J Kennerley⁵ , Gaynor Miller⁶, Pamela J Shaw^{1 7}, Richard J Mead^{1 7}, John C C Day², James J P Alix^{1 7}

• ¹ Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK.

• ² Interface Analysis Centre, School of Physics, University of Bristol, Bristol BS8 1TL, UK.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ³ Phenome Centre Birmingham, University of Birmingham, Birmingham B15 2TT, UK.

• ⁴ Biophotonics Research Unit, Gloucestershire Hospitals NHS Foundation Trust, Gloucester GL1 3NN, UK.

• ⁵Department of Chemistry, University of York, York YO10 5DD, UK.

• ⁶ Department of Oncology and Metabolism, University of Sheffield, Sheffield S10 2RX, UK.

• ⁷ Cross-Faculty Neuroscience Institute, University of Sheffield, Sheffield S10 2HQ, UK.

• PMID: 33950665

• DOI: 10.1021/acschemneuro.0c00794

Keywords: Amyotrophic lateral sclerosis; Duchenne muscular dystrophy; Raman spectroscopy; biomarker; muscle.

22. J Clin Sleep Med . 2021 May 4. doi: 10.5664/jcsm.9400. Online ahead of print.

Determinants of usage and non-adherence to noninvasive ventilation in children and adults with Duchenne muscular dystrophy

Manju S Hurvitz¹, Rakesh Bhattacharjee¹, Daniel J Lesser¹, Andrew J Skalsky², Jeremy E Orr³

• ¹ Department of Pediatrics, Division of Respiratory Medicine, Rady Children's Hospital San Diego University of California San Diego, San Diego, CA.

• ² Department of Orthopedics, Division of Rehabilitation Medicine, Rady Children's Hospital San Diego, University of California San Diego, San Diego, CA.

• ³ Department of Medicine, Division of Pulmonary and Critical Care Medicine, University of California San Diego, San Diego, CA.

• PMID: 33949945

• DOI: 10.5664/jcsm.9400

Keywords: Duchenne muscular dystrophy; adherence; bilevel positive airway pressure; children; noninvasive ventilation;

usage.

23. Hum Mol Genet . 2021 May 5;ddab133. doi: 10.1093/hmg/ddab133. Online ahead of print.

Proteomic analysis identifies key differences in the cardiac interactomes of dystrophin and micro- dystrophin

Hong Wang^{1 2}, Elena Marrosu³, Daniel Brayson³, Nalinda B Wasala⁴, Eric K Johnson¹, Charlotte S Scott³ , Yongping Yue⁴, Kwan-Leong Hau³, Aaron J Trask⁵, Stan C Froehner⁶, Marvin E Adams⁶, Liwen Zhang⁷ , Dongsheng Duan^{4 8}, Federica Montanaro^{1 3}

• ¹ Centre for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, 43205, OH, USA.

• ² Department of Pediatric Cardiology, Shengjing Hospital, China Medical University, Liaoning, 110004, China.

• ³Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, WC1N 1EH, UK.

• ⁴ Department of Molecular Microbiology and Immunology, School of Medicine, University of Missouri, Columbia, MO, 65211, USA.

• ⁵ Center for Cardiovascular Research, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43205, USA.

• ⁶ Department of Physiology and Biophysics, University of Washington, Seattle, WA, 98195, USA.

• ⁷ Mass Spectrometry and Proteomics Facility, Campus Chemical Instrument Center, The Ohio State University, Columbus, OH 43210, USA.

• ⁸ Department of Neurology, School of Medicine; Department of Bioengineering, and Department of Biomedical Sciences, College of Veterinary Medicine; and Department of Biomedical, Biological & Chemical Engineering, College of Engineering, University of Missouri, Columbia, Missouri, 65211, USA.

• PMID: 33949649

• DOI: 10.1093/hmg/ddab133

24. Turk J Phys Med Rehabil . 2021 Mar 4;67(1):41-47. doi: 10.5606/tftrd.2021.4979. eCollection 2021 Mar.

The relationship between scoliosis and upper extremity functions in patients with Duchenne muscular dystrophy

Nihan Erdinç Gündüz¹, Filiz Meryem Sertpoyraz¹, Banu Dilek², Ebru Şahin², Figen Baydan³, Bedile İrem Tiftikcioglu⁴ , Elif Keskin Pehlivan⁵, Aylin Dikici¹, Yaşar Zorlu⁴, Elif Akalın², Özlen Peker²

• ¹ Department of Physical Medicine and Rehabilitation, Health Science University,Izmir Tepecik Training and Research Hospital, Izmir, Turkey.

• ² Department of Physical Medicine and Rehabilitation, Dokuz Eylül University, Faculty of Medicine, Izmir, Turkey.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ³ Department of Paediatric Neurology, Health Science University, Izmir Tepecik Training and Research Hospital, Izmir, Turkey.

• ⁴ Department of Neurology, Health Science University, Izmir Tepecik Training and Research Hospital, Izmir, Turkey.

• ⁵ Department of Physical Medicine and Rehabilitation, Urla State Hospital, Izmir, Turkey.

• PMID: 33948542

• DOI: 10.5606/tftrd.2021.4979

Keywords: Duchenne muscular dystrophy; grip strength; scoliosis; upper extremity function.

25. Review

Biomedicines . 2021 Apr 29;9(5):492. doi: 10.3390/biomedicines9050492.

20-Hydroxyecdysone, from Plant Extracts to Clinical Use: Therapeutic Potential for the Treatment of Neuromuscular, Cardio-Metabolic and Respiratory Diseases

Laurence Dinan¹, Waly Dioh¹, Stanislas Veillet¹, Rene Lafont^{1 2}

• ¹ Biophytis, Sorbonne Université, BC9, 4 place Jussieu, 75005 Paris, France.

• ² BIOSIPE, IBPS, Sorbonne Université, UPMC, 75005 Paris, France.

• PMID: 33947076

• DOI: 10.3390/biomedicines9050492

Keywords: COVID-19; Duchenne muscular dystrophy; Mas1; anabolic; cardiometabolic diseases; diabetes; ecdysteroid;

ecdysterone; osteoporosis; respiratory diseases; sarcopenia; β-ecdysone.

26. Pediatr Pulmonol . 2021 May 3. doi: 10.1002/ppul.25430. Online ahead of print.

Nutritional status, swallowing disorders, and respiratory prognosis in adult Duchenne muscular dystrophy patients

Abdallah Fayssoil 1 2 3 4 , Cendrine Chaffaut⁵, Helene Prigent 2 4 6 , Pascal Laforet 2 4 7 , Bernard Clair^{1 2}, David Orlikowski 1 2 4 , Adam Ogna¹, Sylvie Chevret⁵, Paris Meng¹, Djillali Annane 1 2 4 , Frederic Lofaso 2 4 6 , Pascal Crenn 2 4 8

• ¹ Service de Médecine intensive et Réanimation/Unité de ventilation à domicile, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.

• ² CRMR des maladies neuromusculaires Nord-Est-Ile de France, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.

• ³ Service de cardiologie, Centre de référence des cardiomyopathies et des troubles du rythme cardiaque héréditaires ou rares, Hôpital Ambroise Paré, AP-HP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Boulogne-Billancourt, France.

• ⁴ Centre d'Investigation clinique (CIC) 1429 INSERM, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.

• ⁵ Service de Biostatistiques et Information Médicale (SBIM), Hôpital Saint Louis, APHP, Université Paris, Paris, France.

• ⁶ Service de Physiologie-Explorations fonctionnelles, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.

• ⁷ Service de Neurologie/Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé- Université de Versailles Saint Quentin en Yvelines, Garches, France.

• ⁸ Unité de Nutrition clinique transversale, Hôpital Raymond Poincaré, APHP Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.

• PMID: 33939888

• DOI: 10.1002/ppul.25430

Keywords: Duchenne muscular dystrophy; albumin; home mechanical ventilation; malnutrition; prognosis.

27. PLoS One . 2021 May 3;16(5):e0250420. doi: 10.1371/journal.pone.0250420. eCollection 2021.

Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging

Laura Biagi¹, Sara Lenzi², Emilio Cipriano^{1 3}, Simona Fiori², Paolo Bosco¹, Paola Cristofani², Guia Astrea² , Antonella Pini², Giovanni Cioni^{2 4}, Eugenio Mercuri⁵, Michela Tosetti¹, Roberta Battini^{2 4}

• ¹ Laboratory of Medical Physics and Magnetic Resonance, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ² Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy.

• ³ Department of Physics, University of Pisa, Pisa, Italy.

• ⁴ Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

• ⁵ Pediatric Neurology Unit, Catholic University and Nemo Center, Policlinico Universitario Gemelli, Rome, Italy.

• PMID: 33939732

• DOI: 10.1371/journal.pone.0250420

28. OTJR (Thorofare N J) . 2021 May 3; doi: 10.1177/15394492211004844. Online ahead of print.

Everyday Life Participation Using Powered Wheelchair Standing Devices by Boys With DMD Helena Young¹, Paula Bray^{1 2}, Kausik McKinnon¹, Joshua Burns^{1 2}, Anita Bundy^{2 3}

• ¹ The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

• ² The University of Sydney School of Health Sciences, New South Wales, Australia.

• ³ Colorado State University, Fort Collins, USA.

• PMID: 33938309

• DOI: 10.1177/15394492211004844 Keywords: descriptive study; participation; survey.

29. Front Genet . 2021 Apr 16;12:657040. doi: 10.3389/fgene.2021.657040. eCollection 2021.

Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients Xinguo Lu¹, Chunxi Han¹, Jiahui Mai¹, Xianping Jiang², Jianxiang Liao¹, Yanqi Hou³, Di Cui³

• ¹Department of Neurology, Shenzhen Children's Hospital, Shenzhen, China.

• ²Department of Pathology, Shenzhen Children's Hospital, Shenzhen, China.

• ³ Running Gene Inc., Beijing, China.

• PMID: 33936175

• DOI: 10.3389/fgene.2021.657040

Keywords: Becker muscular dystrophy; DMD; Duchenne muscular dystrophy; cDNA analysis; movement disorder; target DNA sequencing.

30. J Neuromuscul Dis . 2021 Apr 26. doi: 10.3233/JND-210640. Online ahead of print.

Early Gross Motor Milestones in Duchenne Muscular Dystrophy

Giulia Norcia¹, Simona Lucibello^{1 2}, Giorgia Coratti^{1 2}, Roberta Onesimo³, Elisa Pede², Gloria Ferrantini^{1 2} , Claudia Brogna², Graziamaria Cicala², Sara Carnicella¹, Nicola Forcina¹, Lavinia Fanelli¹, Marika Pane^{1 2} , Eugenio Mercuri^{1 2}

• ¹Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

• ² Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.

• ³ Institute of Pediatrics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

• PMID: 33935100

• DOI: 10.3233/JND-210640

Keywords: Duchenne muscular dystrophy; dystrophin isoforms; early motor milestones; gross motor milestones.

31. Sci Adv . 2021 Apr 30;7(18):eabg4910. doi: 10.1126/sciadv.abg4910. Print 2021 Apr.

Precise correction of Duchenne muscular dystrophy exon deletion mutations by base and prime editing

F Chemello 1 2 3 , A C Chai 1 2 3 , H Li 1 2 3 , C Rodriguez-Caycedo 1 2 3 , E Sanchez-Ortiz 1 2 3 , A Atmanli 1 2 3 , A A Mireault 1 2 3 , N Liu 1 2 3 , R Bassel-Duby 1 2 3 , E N Olson 4 2 3

• ¹ Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

• ² Hamon Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

• ³ Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

• ⁴ Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

eric.olson@utsouthwestern.edu.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• PMID: 33931459

• DOI: 10.1126/sciadv.abg4910

32. Biomedicines . 2021 Apr 27;9(5):481. doi: 10.3390/biomedicines9050481.

Age-Dependent Dysregulation of Muscle Vasculature and Blood Flow Recovery after Hindlimb Ischemia in the mdx Model of Duchenne Muscular Dystrophy

Paulina Podkalicka¹, Olga Mucha¹, Katarzyna Kaziród¹, Iwona Bronisz-Budzyńska¹, Sophie Ostrowska-Paton¹ , Mateusz Tomczyk¹, Kalina Andrysiak¹, Jacek Stępniewski¹, Józef Dulak¹, Agnieszka Łoboda¹

• ¹ Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, 30-387 Kraków, Poland.

• PMID: 33925757

• DOI: 10.3390/biomedicines9050481

Keywords: DMD; Duchenne muscular dystrophy; angiogenesis; endothelial cells; hindlimb ischemia; retinal angiogenesis.

33. Metabolites . 2021 Apr 16;11(4):247. doi: 10.3390/metabo11040247.

Improved Bone Quality and Bone Healing of Dystrophic Mice by Parabiosis

Hongshuai Li¹, Aiping Lu², Xueqin Gao², Ying Tang¹, Sudheer Ravuri², Bing Wang¹, Johnny Huard²

• ¹ Department of Orthopaedic Surgery, University of Pittsburgh, Pittsburgh, PA 15260, USA.

• ² Steadman Philippon Research Institute, Vail, CO 81657, USA.

• PMID: 33923553

• DOI: 10.3390/metabo11040247

Keywords: Duchenne muscular dystrophy; bone abnormality/healing; circulating factors and progenitors; parabiosis.

34. Review

Int J Mol Sci . 2021 Apr 19;22(8):4236. doi: 10.3390/ijms22084236.

MiRNAs and Muscle Regeneration: Therapeutic Targets in Duchenne Muscular Dystrophy

Amelia Eva Aránega^{1 2}, Estefanía Lozano-Velasco^{1 2}, Lara Rodriguez-Outeiriño^{1 2}, Felicitas Ramírez de Acuña^{1 2} , Diego Franco^{1 2}, Francisco Hernández-Torres 1 2 3

• ¹ Department of Experimental Biology, Faculty of Experimental Sciences, University of Jaen, Paraje Las Lagunillas s/n, 23009 Jaen, Spain.

• ² Medina Foundation, Technology Park of Health Sciences, Av. del Conocimiento 34, 18016 Granada, Spain.

• ³ Department of Biochemistry and Molecular Biology III and Immunology, Faculty of Medicine, University of Granada, Avda. de la Investigación 11, 18016 Granada, Spain.

• PMID: 33921834

• DOI: 10.3390/ijms22084236

Keywords: microRNA; muscle regeneration; muscular dystrophies; myogenesis; satellite cell.

35. Genes (Basel) . 2021 Apr 9;12(4):543. doi: 10.3390/genes12040543.

A Network Medicine Approach for Drug Repurposing in Duchenne Muscular Dystrophy

Salvo Danilo Lombardo¹, Maria Sofia Basile², Rosella Ciurleo², Alessia Bramanti², Antonio Arcidiacono³, Katia Mangano³, Placido Bramanti², Ferdinando Nicoletti³, Paolo Fagone³

• ¹Department of Structural & Computational Biology at the Max Perutz Labs, University of Vienna, 1010 Vienna, Austria.

• ² IRCCS Centro Neurolesi "Bonino-Pulejo", Via Provinciale Palermo, Contrada Casazza, 98124 Messina, Italy.

• ³ Department of Biomedical and Biotechnological Sciences, University of Catania, Via S. Sofia 89, 95123 Catania, Italy.

• PMID: 33918694

• DOI: 10.3390/genes12040543

Keywords: Duchenne muscular dystrophy; computational biology; drug discovery; drug repurposing; microarray analysis;

network medicine; protein–protein interactions.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

36. Review

Int J Environ Res Public Health . 2021 Apr 7;18(8):3874. doi: 10.3390/ijerph18083874.

A Review of the Role of Endo/Sarcoplasmic Reticulum-Mitochondria Ca ²⁺ Transport in Diseases and Skeletal Muscle Function

Shuang-Shuang Zhang^{1 2}, Shi Zhou², Zachary J Crowley-McHattan², Rui-Yuan Wang¹, Jun-Ping Li¹

• ¹ School of Sport Science, Beijing Sport University, Beijing 100084, China.

• ² Faculty of Health, Southern Cross University, East Lismore, NSW 2480, Australia.

• PMID: 33917091

• DOI: 10.3390/ijerph18083874

Keywords: endo/sarcoplasmic reticulum-mitochondria Ca2+ transport; mitochondria-associated membrane; mitochondrial

37. Review

Antioxidants (Basel) . 2021 Apr 3;10(4):558. doi: 10.3390/antiox10040558.

Beneficial Role of Exercise in the Modulation of mdx Muscle Plastic Remodeling and Oxidative Stress Monica Frinchi¹, Giuseppe Morici^{1 2}, Giuseppa Mudó¹, Maria R Bonsignore^{2 3}, Valentina Di Liberto¹

• ¹ Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, 90134 Palermo, Italy.

• ² Institute for Biomedical Research and Innovation, National Research Council, 90146 Palermo, Italy.

• ³ Department of Health Promotion Sciences Maternal and Infantile Care, Internal Medicine and Medical Specialties (PROMISE), University of Palermo, 90127 Palermo, Italy.

• PMID: 33916762

• DOI: 10.3390/antiox10040558

Keywords: ROS; antioxidants; duchenne muscular dystrophy; muscle inflammation; swimming; training; treadmill running;

voluntary exercise.

38. Eur J Med Chem . 2021 Apr 20;220:113431. doi: 10.1016/j.ejmech.2021.113431. Online ahead of print.

Discovery and mechanism of action studies of 4,6-diphenylpyrimidine-2-carbohydrazides as utrophin modulators for the treatment of Duchenne muscular dystrophy

Aini Vuorinen¹, Isabel V L Wilkinson¹, Maria Chatzopoulou¹, Ben Edwards², Sarah E Squire², Rebecca J Fairclough² , Noelia Araujo Bazan¹, Josh A Milner¹, Daniel Conole¹, James R Donald¹, Nandini Shah², Nicky J Willis¹, R Fernando Martínez¹, Francis X Wilson³, Graham M Wynne¹, Stephen G Davies¹, Kay E Davies⁴, Angela J Russell⁵

• ¹ Department of Chemistry, University of Oxford, Chemistry Research Laboratory, Mansfield Road, Oxford, OX1 3TA, UK.

• ² Department of Physiology, Anatomy and Genetics, University of Oxford, Sir Henry Wellcome Building of Gene Function, South Parks Road, Oxford, OX1 3PT, UK.

• ³ Summit Therapeutics Plc, 136a Eastern Avenue, Milton Park, Abingdon, Oxfordshire, OX14 4SB, UK.

• ⁴ Department of Physiology, Anatomy and Genetics, University of Oxford, Sir Henry Wellcome Building of Gene Function, South Parks Road, Oxford, OX1 3PT, UK. Electronic address: kay.davies@dpag.ox.ac.uk.

• ⁵ Department of Chemistry, University of Oxford, Chemistry Research Laboratory, Mansfield Road, Oxford, OX1 3TA, UK; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, OX1 3PQ, UK. Electronic address: angela.russell@chem.ox.ac.uk.

• PMID: 33915371

• DOI: 10.1016/j.ejmech.2021.113431

Keywords: Chemical proteomics; Duchenne muscular dystrophy; Mechanism of action; Phenotypic drug discovery;

Photoaffinity labelling; Target deconvolution; Utrophin.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-05-1 du 23 avril 2021 au 06 mai 2021 (April 23 to May 6, 2021) 39. Orphanet J Rare Dis . 2021 Apr 28;16(1):188. doi: 10.1186/s13023-021-01837-x.

Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy

Shu Zhang^{# 1 2}, Dongdong Qin^{# 3}, Liwen Wu⁴, Man Li⁵, Lifang Song⁶, Cuijie Wei⁷, Chunling Lu⁸, Xiaoli Zhang⁹ , Siqi Hong¹⁰, Mingming Ma¹¹, Shiwen Wu 12 13 14 , National DMD Research Network of “One City, One Doctor”

• ¹ Department of Neurology, First Medical Center of Chinese PLA General Hospital, Beijing, 100853, China.

• ² Department of Neurology, Third Medical Center of Chinese PLA General Hospital, Beijing, 100039, China.

• ³ Department of Physiology, Yunnan University of Chinese Medicine, Kunming, 650500, Yunnan Province, China.

• ⁴ Department of Neurology, Hunan Children's Hospital, Changsha, 410008, Hunan Province, China.

• ⁵ Department of Neurology, The Second Hospital of Shanxi Medical University, Taiyuan, 030001, Shanxi Province, China.

• ⁶Department of Pediatric Neurology, Henan Children's Hospital, Zhengzhou, 450018, Henan Province, China.

• ⁷ Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.

• ⁸ Department of Muscle Atrophy, Affiliated Yiling Hospital of Hebei Medical University, Shijiazhuang, 050091, Hebei Province, China.

• ⁹Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan Province, China.

• ¹⁰ Department of Pediatrics, Chongqing Medical University Affiliated Children's Hospital, Chongqing, 400042, China.

• ¹¹Department of Neurology, Affiliated People's Hospital of Zhengzhou University, Zhengzhou, 450003, Henan Province, China.

• ¹² Department of Neurology, First Medical Center of Chinese PLA General Hospital, Beijing, 100853, China.

wu_shiwen@yahoo.com.

• ¹³ Department of Neurology, Third Medical Center of Chinese PLA General Hospital, Beijing, 100039, China.

wu_shiwen@yahoo.com.

• ¹⁴ Department of Neurology, Chinese PLA General Hospital, 28 Fuxing Road, Haidian District, Beijing, 100853, China. wu_shiwen@yahoo.com.

# Contributed equally.

• PMID: 33910603

• DOI: 10.1186/s13023-021-01837-x

Keywords: Duchenne muscular dystrophy; Genotype; Glucocorticoid treatment; Phenotype.

40. J Cardiovasc Magn Reson . 2021 Apr 29;23(1):48. doi: 10.1186/s12968-021-00736-1.

Non-contrast cardiovascular magnetic resonance detection of myocardial fibrosis in Duchenne muscular dystrophy

Frank J Raucci Jr^{1 2}, Meng Xu³, Kristen George-Durrett⁴, Kimberly Crum⁴, James C Slaughter³, David A Parra⁴ , Larry W Markham⁵, Jonathan H Soslow⁴

• ¹ Thomas P Graham Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA. frank.raucci@vcuhealth.org.

• ² Division of Pediatric Cardiology, Department of Pediatrics, Children's Hospital of Richmond, Virginia

Commonwealth University Medical Center, 1000 E. Broad St, Suite 5-344, Children's Pavilion, Richmond, VA, 23219, USA. frank.raucci@vcuhealth.org.

• ³ Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.

• ⁴ Thomas P Graham Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.

• ⁵ Division of Cardiology, Department of Pediatrics, Riley Hospital for Children at Indiana University Health, Indianapolis, IN, USA.

• PMID: 33910579

• DOI: 10.1186/s12968-021-00736-1

Keywords: Cardiac fibrosis; Circumferential strain; Duchene muscular dystrophy; Late gadolinium enhancement; Native T1.