151. Front Psychol. 2021 Sep 6;12:697881. doi: 10.3389/fpsyg.2021.697881. eCollection 2021.
Neuromuscular Diseases Affect Number Representation and Processing: An Exploratory Study Hendrikje Schmidt 1 2, Arianna Felisatti 1, Michael von Aster 2, Jürgen Wilbert 3, Arpad von Moers 4, Martin H Fischer 1
• 1Potsdam Embodied Cognition Group, Department of Psychology, University of Potsdam, Potsdam, Germany.
• 2Center for Special Educational and Psychological Needs, German Red Cross Hospitals Berlin, Berlin, Germany.
• 3Department of Inclusive Education, University of Potsdam, Potsdam, Germany.
• 4Department of Pediatrics, German Red Cross Hospitals Berlin, Berlin, Germany.
• PMID: 34552528
• PMCID: PMC8450493
• DOI: 10.3389/fpsyg.2021.697881
Keywords: Duchenne muscular dystrophy; child development; embodied cognition; mathematics; neuromuscular disease;
numerical processing; spatial-numerical associations; spinal muscular atrophy.
152. Disabil Rehabil. 2021 Sep 21;1-7. doi: 10.1080/09638288.2021.1977399. Online ahead of print.
Characterising gait in paediatric neuromuscular disorders: an observational study of spatio-temporal gait in a clinical cohort
Rachel A Kennedy 1 2, Katy de Valle 1 2, Justine Adams 1, Monique M Ryan 1 2, Alisha K Fitzgerald 3, Kate Carroll 1 2
• 1Clinical Sciences Group, Murdoch Children's Research Institute, Parkville, Australia.
• 2Department of Neurology, The Royal Children's Hospital, Parkville, Australia.
• 3Physiotherapy Department, Donvale Rehabilitation Hospital, Donvale, Australia.
• PMID: 34546805
• DOI: 10.1080/09638288.2021.1977399
Keywords: Duchenne muscular dystrophy; Spatio-temporal gait assessment; children; functional mobility; neuromuscular disorders; spinal muscular atrophy; young people.
153. Methods Mol Biol. 2022;2373:213-230. doi: 10.1007/978-1-0716-1693-2_13.
Biofabrication of 3D Human Muscle Model with Vascularization and Endomysium Simone Bersini 1, Riccardo Francescato 1 2, Matteo Moretti 3 4 5
• 1Regenerative Medicine Technologies Laboratory, Ente Ospedaliero Cantonale, Lugano, Switzerland.
• 2Department of Electronics, Information and Bioengineering, Politecnico di Milano, Milano, Italy.
• 3Regenerative Medicine Technologies Laboratory, Ente Ospedaliero Cantonale, Lugano, Switzerland.
matteo.moretti@eoc.ch.
• 4IRCCS Istituto Ortopedico Galeazzi, Cell and Tissue Engineering Laboratory, Milano, Italy.
matteo.moretti@eoc.ch.
• 5Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano, Switzerland. matteo.moretti@eoc.ch.
• PMID: 34520015
• DOI: 10.1007/978-1-0716-1693-2_13
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-09-2 du 10 au 23 sept 2021 (September 10 to 23, 2021)Keywords: 3D human muscle model; 3D printing; Duchenne muscular dystrophy; Endomysium; Endothelial cell; Fibrosis;
Mesoscale; Organ specificity; Vasculature.
154. Sensors (Basel). 2021 Aug 26;21(17):5738. doi: 10.3390/s21175738.
Wheelchair-Mounted Upper Limb Robotic Exoskeleton with Adaptive Controller for Activities of Daily Living
Bridget Schabron 1, Jaydip Desai 1, Yimesker Yihun 2
• 1Neuro-Robotics Lab, Biomedical Engineering, Wichita State University, Wichita, KS 67260, USA.
• 2Robotics and Control Lab, Mechanical Engineering, Wichita State University, Wichita, KS 67260, USA.
• PMID: 34502632
• PMCID: PMC8433689
• DOI: 10.3390/s21175738
Keywords: artificial neural network; assistive technology; electromyography; exoskeleton; hand gestures; robotics.
155. Elife. 2021 Sep 14;10:e72419. doi: 10.7554/eLife.72419. Online ahead of print.
Filopodia powered by class X myosin promote fusion of mammalian myoblasts
David W Hammers 1, Cora C Hart 1, Michael K Matheny 1, Ernest G Heimsath 2, Young Il Lee 1, John A Hammer 3rd 3, Richard E Cheney 4, H Lee Sweeney 1
• 1Department of Pharmacology and Therapeutics, University of Florida, Gainesville, United States.
• 2Cell Biology & Physiology, University of North Carolina, Chapel Hill, United States.
• 3Cell Biology and Physiology Center, National Heart, Lung and Blood Institute, Bethesda, United States.
• 4Department of Cell Biology and Physiology, University of North Carolina School of Medicine, Chapel Hill, United States.
• PMID: 34519272
• DOI: 10.7554/eLife.72419
Keywords: cell biology; human; mouse; regenerative medicine; stem cells.
156. Cell. 2021 Sep 16;184(19):4919-4938.e22. doi: 10.1016/j.cell.2021.08.028. Epub 2021 Sep 9.
Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species
Mohammadsharif Tabebordbar 1, Kim A Lagerborg 2, Alexandra Stanton 3, Emily M King 4, Simon Ye 5, Liana
Tellez 4, Allison Krunnfusz 4, Sahar Tavakoli 6, Jeffrey J Widrick 7, Kathleen A Messemer 8, Emily C Troiano 7, Behzad Moghadaszadeh 7, Bryan L Peacker 8, Krystynne A Leacock 8, Naftali Horwitz 9, Alan H Beggs 10, Amy J Wagers 11, Pardis C Sabeti 12
• 1Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: tabebord@fas.harvard.edu.
• 2Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA.
• 3Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard Program in Virology, Harvard Medical School, Boston, MA 02115, USA.
• 4Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
• 5Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard-MIT Health Sciences and Technology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
• 6Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Harvard Stem Cell Institute, Cambridge, MA 02138, USA; Paul F. Glenn Center for the Biology of Aging, Harvard Medical School, Boston, MA 02115, USA; Stem Cell Program and Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA 02115, USA.
• 7Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
• 8Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Harvard Stem Cell Institute, Cambridge, MA 02138, USA; Paul F. Glenn Center for the Biology of Aging, Harvard Medical School, Boston, MA 02115, USA.
• 9Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Harvard Stem Cell Institute, Cambridge, MA 02138, USA; Paul F. Glenn Center for the Biology of Aging, Harvard Medical School, Boston, MA 02115, USA; Section on Islet Cell and Regenerative Biology, Joslin Diabetes Center, Boston, MA 02215, USA.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-09-2 du 10 au 23 sept 2021 (September 10 to 23, 2021)• 10Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
• 11Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Harvard Stem Cell Institute, Cambridge, MA 02138, USA; Paul F. Glenn Center for the Biology of Aging, Harvard Medical School, Boston, MA 02115, USA; Section on Islet Cell and Regenerative Biology, Joslin Diabetes Center, Boston, MA 02215, USA. Electronic address: amy_wagers@harvard.edu.
• 12Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Organismic and Evolutionary Biology, FAS Center for Systems Biology, Harvard University, Cambridge, MA 02138, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA. Electronic address: pardis@broadinstitute.org.
• PMID: 34506722
• DOI: 10.1016/j.cell.2021.08.028
Keywords: AAV capsid engineering; Duchenne muscular dystrophy; MyoAAV; X-linked myotubular myopathy; directed evolution; integrin heterodimers; muscle gene therapy; non-human primates.
157. Muscle Nerve. 2021 Sep 22. doi: 10.1002/mus.27423. Online ahead of print.
Cardiopulmonary Exercise Performance and Factors Associated with Aerobic Capacity in Neuromuscular Diseases
Gita M Ramdharry 1 2, Amanda Wallace 1, Philip Hennis 3, Elizabeth Dewar 2, Magdalena Dudziec 1 3, Katherine Jones 2, Aleksandra Pietrusz 1, Mary M Reilly 1, Michael G Hanna 1
• 1Department of Neuromuscular Diseases, University College London: Institute of Neurology, London, UK.
• 2Queen Square Centre for Neuromuscular Diseases National Hospital for Neurology and Neurosurgery, University College Hospitals, NHS Foundation Trust.
• 3Institute of Sport, Exercise and Health, UCL, UK.
• PMID: 34550609
• DOI: 10.1002/mus.27423
158. Neurol Sci. 2021 Sep 16. doi: 10.1007/s10072-021-05591-7. Online ahead of print.
Charcot-Marie-Tooth disease type 4C associated with myasthenia gravis: coincidental or a foreseeable association?
Paulo José Lorenzoni 1, Claudia Suemi Kamoi Kay 2, Renata Dal-Prá Ducci 2, Otto Jesus Hernandez Fustes 2, Lineu Cesar Werneck 2, Rosana Herminia Scola 2
• 1Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil. lorenzoni@ufpr.br.
• 2Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.
• PMID: 34532771
• DOI: 10.1007/s10072-021-05591-7
Keywords: Charcot-Marie-Tooth disease; Hereditary neuropathy; Myasthenia gravis; Neuromuscular junction.
Review
159. Cancer Immunol Immunother. 2021 Sep 13. doi: 10.1007/s00262-021-03053-9. Online ahead of print.
Neurological disorders associated with immune checkpoint inhibitors: an association with autoantibodies
Morinobu Seki 1, Shigehisa Kitano 2, Shigeaki Suzuki 3
• 1Department of Neurology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
• 2Division of Cancer Immunotherapy Development, Center for Advanced Medical Development, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, Japan.
• 3Department of Neurology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. sgsuzuki@z3.keio.jp.
• PMID: 34515815
• DOI: 10.1007/s00262-021-03053-9
Keywords: Autoantibody; Immune checkpoint inhibitors; Immune-related adverse events; Neurological disorders.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-09-2 du 10 au 23 sept 2021 (September 10 to 23, 2021)160. Cesk Patol. Summer 2021;57(3):150-153.
Next generation sequencing and its application in the diagnostics of neuromuscular diseases Jana Zídková, Jana Haberlová, Tereza Kramářová, Lenka Fajkusová
• PMID: 34551563
Keywords: NGS; diagnosis; diagnostics; neuromuscular diseases.
Review
161. Front Pediatr. 2021 Sep 1;9:625751. doi: 10.3389/fped.2021.625751. eCollection 2021.
All You Need Is Evidence: What We Know About Pneumonia in Children With Neuromuscular Diseases Claudio Cherchi 1 2, Maria B Chiarini Testa 1 2, Daniele Deriu 3, Alessandra Schiavino 1 2, Francesca Petreschi 1 2, Nicola Ullmann 1 2, Maria G Paglietti 1 2, Renato Cutrera 1 2
• 1Pediatric Pulmonology and Respiratory Intermediate Care Unit, Sleep and Long Term Ventilation Unit, Academic Department of Pediatrics (DPUO), Pediatric Hospital "Bambino Gesù" Research Institute, Rome, Italy.
• 2Rare Diseases and Medical Genetics Unit, Bambino Gesù Children Hospital (IRCCS), Rome, Italy.
• 3Department of Pediatrics, University of Rome Tor Vergata, Rome, Italy.
• PMID: 34540761
• PMCID: PMC8441014
• DOI: 10.3389/fped.2021.625751
Keywords: SMA; atelectasia; duchene muscular dystrophy; neuromuscular disease; pneumonia.
162. Neurologia (Engl Ed). 2021 Sep;36(7):514-524. doi: 10.1016/j.nrleng.2020.05.005. Epub 2020 May 29.
Transcultural adaptation and validation of the Spanish-language version of ACTIVLIM in adults with inherited myopathies using the Rasch model
I Pagola 1, L Torné 2, I Jericó 2, B Ibáñez 3
• 1Servicio de Medicina Interna, Departamento de Neurología, Hospital Reina Sofía de Tudela, Tudela, Navarra, Spain; Instituto de Investigación Sanitaria de Navarra, Pamplona, Navarra, Spain. Electronic address:
inmaculada.pagola.lorz@navarra.es.
• 2Instituto de Investigación Sanitaria de Navarra, Pamplona, Navarra, Spain; Departamento de Neurología, Complejo Hospitalario de Navarra, Pamplona, Navarra, Spain.
• 3Instituto de Investigación Sanitaria de Navarra, Pamplona, Navarra, Spain; Navarrabiomed-Departamento de Salud-UPNA. Red de Investigación en Servicios Sanitarios y Enfermedades Crónicas (REDISSEC), Pamplona, Navarra, Spain.
• PMID: 34537165
• DOI: 10.1016/j.nrleng.2020.05.005
Keywords: Análisis Rasch; Cuestionario; Discapacidad funcional; Enfermedades neuromusculares; Functional disability;
Instrumento de medición; Measurement instrument; Neuromuscular disorders; Questionnaire; Rasch analysis; Validación;
Validation.
163. Lancet Neurol. 2021 Oct;20(10):788-789. doi: 10.1016/S1474-4422(21)00266-0.
Crowdfunding for neuromuscular disease treatment: the ethical implications Angus Livingstone 1, Laurent Servais 2, Dominic J C Wilkinson 3
• 1Medical School, University of Oxford, Oxford, UK.
• 2MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, UK; Division of Child Neurology Reference Center for Neuromuscular Disease, Department of Paediatrics, University Hospital Liège, Liège, Belgium.
• 3Oxford Uehiro Centre for Practical Ethics, Faculty of Philosophy, University of Oxford, Oxford, UK; Newborn Care Unit, John Radcliffe Hospital, Oxford OX1 1PT, UK; Murdoch Children's Research Institute, Melbourne, VIC, Australia. Electronic address: dominic.wilkinson@philosophy.ox.ac.uk.
• PMID: 34536401
• DOI: 10.1016/S1474-4422(21)00266-0
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-09-2 du 10 au 23 sept 2021 (September 10 to 23, 2021) 164. J Clin Sleep Med. 2021 Sep 21. doi: 10.5664/jcsm.9652. Online ahead of print.Home portable monitoring for the diagnosis of sleep-disordered breathing in adolescents and adults with neuromuscular disorders: not yet ready for prime time
Mahadevappa Hunasikatti
• PMID: 34534070
• DOI: 10.5664/jcsm.9652
165. S Afr J Physiother. 2021 Aug 31;77(1):1577. doi: 10.4102/sajp.v77i1.1577. eCollection 2021.
Inspiratory muscle training in children and adolescents living with neuromuscular diseases: A pre-experimental study
Anri Human 1 2, Brenda M Morrow 3
• 1Department of Physiotherapy, Faculty of Healthcare Sciences, Sefako Makgatho Health Sciences University, Garankuwa, Pretoria, South Africa.
• 2Department of Health and Rehabilitation Sciences, Faculty of Health Sciences, University of Cape Town, Observatory, South Africa.
• 3Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.
• PMID: 34522820
• PMCID: PMC8424756
• DOI: 10.4102/sajp.v77i1.1577
Keywords: children; inspiratory muscle strength; inspiratory muscle training; neuromuscular disease; pulmonary function.
166. BMJ Open. 2021 Sep 14;11(9):e047449. doi: 10.1136/bmjopen-2020-047449.
Weaning from mechanical ventilation in people with neuromuscular disease: a systematic review Saint Clair Gomes Bernardes Neto 1, Rodrigo Torres-Castro 2 3, Íllia Lima 4, Vanessa R Resqueti 3 5, Guilherme A F Fregonezi 3 6
• 1PneumoCardioVascular Lab/HUOL, Hospital Universitário Onofre Lopes, Empresa Brasileira de Serviços Hospitalares and Departamento de Fisioterapia, Universidade Federal do Rio Grande do Norte, Natal, Brazil netosam@gmail.com.
• 2Department of Physical Therapy, Faculty of Medicine, University of Chile, Santiago, Chile.
• 3International Physiotherapy Research Network (PhysioEvidence), Natal, Brazil.
• 4FACISA - Faculdade de Ciências de Saúde do Trairi, Federal University of Rio Grande do Norte, Natal, Brazil.
• 5PneumoCardioVascular Lab/HUOL, Hospital Universitário Onofre Lopes, Empresa Brasileira de Serviços Hospitalares and Departamento de Fisioterapia, Federal University of Rio Grande do Norte, Natal, Brazil.
• 61PneumoCardioVascular Lab/HUOL, Hospital Universitário Onofre Lopes, Empresa Brasileira de Serviços Hospitalares and Departamento de Fisioterapia Universidade Federal do Rio Grande do Norte, Federal University of Rio Grande do Norte, Natal, Brazil.
• PMID: 34521661
• DOI: 10.1136/bmjopen-2020-047449
Keywords: intensive & critical care; neuromuscular disease; respiratory medicine (see thoracic medicine).
167. Endocr Rev. 2021 Sep 14;bnab030. doi: 10.1210/endrev/bnab030. Online ahead of print.
Myostatin/Activin Receptor Ligands In Muscle And The Development Status Of Attenuating Drugs Buel D Rodgers 1, Christopher W Ward 2
• 1AAVogen, Inc., Rockville, MD.
• 2Department of Orthopedics and Center for Biomedical Engineering and Technology (BioMET), University of Maryland School of Medicine, Baltimore, MD.
• PMID: 34520530
• DOI: 10.1210/endrev/bnab030
Keywords: ACVR2; ACVR2B; ActRIIa; ActRIIb; GDF11; activin; growth/differentiation factor (GDF)8; muscle atrophy;
muscle wasting; myostatin.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-09-2 du 10 au 23 sept 2021 (September 10 to 23, 2021) 168. J Cell Mol Med. 2021 Sep 12. doi: 10.1111/jcmm.16899. Online ahead of print.Simple derivation of skeletal muscle from human pluripotent stem cells using temperature-sensitive Sendai virus vector
Ghee Wan Tan 1, Takayuki Kondo 1 2 3, Keiko Imamura 1 2 3, Mika Suga 1 2, Takako Enami 1 3, Ayako Nagahashi 1 3, Kayoko Tsukita 1 2, Ikuyo Inoue 1 3, Jitsutaro Kawaguchi 4, Tsugumine Shu 4, Haruhisa Inoue 1 2 3
• 1Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
• 2iPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center (BRC), Kyoto, Japan.
• 3Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, Japan.
• 4R&D Center, ID Pharma Co., Ltd, Tsukuba, Japan.
• PMID: 34510713
• DOI: 10.1111/jcmm.16899
Keywords: Myod1; Sendai virus; differentiation method; disease modelling; high temperature treatment; human embryonic stem cells; human-induced pluripotent stem cells; skeletal muscle.
Review
169. Neurol India. Jul-Aug 2021;69(4):797-807. doi: 10.4103/0028-3886.325313.
Challenges and Advances in Molecular Diagnosis of Myopathies and Dystrophies in Perspective of Their Use in Developing Countries: Past, Present, and Future
Shivangi Attri 1, Suresh K Gahlawat 1
• 1Department of Biotechnology, Chaudhary Devi Lal University, Sirsa, Haryana, India.
• PMID: 34507392
• DOI: 10.4103/0028-3886.325313
Keywords: Diagnosis; GNE; dystrophy; genetics; myopathy.
170. Immunother Adv. 2021 Jun 16;1(1):ltab014. doi: 10.1093/immadv/ltab014. eCollection 2021 Jan.
Association between incidental statin use and skeletal myopathies in patients treated with immune checkpoint inhibitors
Zsofia D Drobni 1 2 3, Sean P Murphy 1, Raza M Alvi 1, Charlotte Lee 1, Jingyi Gong 4, Ramya C Mosarla 1, Paula K Rambarat 1, Sarah B Hartmann 1, Hannah K Gilman 1, Leyre Zubiri 5, Vineet K Raghu 1, Ryan J Sullivan 5, Amna
Zafar 1, Daniel A Zlotoff 3, Meghan E Sise 6, Amanda C Guidon 7, Kerry L Reynolds 5, Michael Dougan 6, Tomas G Neilan 1 3
• 1Cardiovascular Imaging Research Center, Department of Radiology and Division of Cardiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
• 2Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Budapest, Hungary.
• 3Cardio-Oncology Program, Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
• 4Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
• 5Division of Oncology and Hematology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
• 6Division of Gastroenterology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
• 7Division of Neuromuscular Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
• PMID: 34541581
• PMCID: PMC8444991
• DOI: 10.1093/immadv/ltab014
Keywords: immune checkpoint inhibitors; immune-related adverse events; skeletal myopathy; statin therapy.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-09-2 du 10 au 23 sept 2021 (September 10 to 23, 2021) Review171. Eur J Paediatr Neurol. 2021 Aug 31;S1090-3798(21)00156-2. Online ahead of print.
Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review
Ellen Rijckmans 1, Katrien Stouffs 2, Anna C Jansen 3, Stefanie Brock 4
• 1Department of Pediatrics, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium; Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.
• 2Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium; Centre for Medical Genetics, UZ Brussel, Brussels, Belgium.
• 3Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium.
• 4Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium; Department of Pathology, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium. Electronic address: Stefanie.brock@vub.be.
• PMID: 34535379
• DOI: 10.1016/j.ejpn.2021.08.006
Keywords: MCD; Muscular dystrophy; Myopathy; Polyneuropathy; Spastic paraplegia.