Author information:
(1)NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, 
University of Oxford, Oxford, UK.
(2)Department of Neuromuscular Disorders, UCL Queen Square Institute of 
Neurology, London, UK.
(3)Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, 
National Institutes of Health, Bethesda, MD, USA.
(4)Department of Human Genetics, Sidra Medicine, Doha, Qatar.
(5)Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), 
Institute of Genetics, and Center for Rare Diseases Cologne, University of 
Cologne, Cologne, Germany.
(6)William Harvey Research Institute, Queen Mary University of London, London, 
UK.
(7)Genomics England, London, UK.
(8)Centogene AG, Rostock, Germany.
(9)Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University 
of Medical Sciences, Isfahan, Iran.
(10)Department of Neurology, Faculty of Medicine, Isfahan University of Medical 
Sciences, Isfahan, Iran.
(11)The John Walton Muscular Dystrophy Research Centre, Institute of Genetic 
Medicine, Newcastle University, Newcastle, UK.
(12)Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK.
(13)Department of Paediatric Neurology - Neuromuscular Service, Evelina 
Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.
(14)Department of Neurology, Royal Devon and Exeter NHS Trust, Exeter, UK.
(15)Randall Division of Cell and Molecular Biophysics Muscle Signalling Section, 
King's College London, London, UK.
(16)Department of Basic and Clinical Neuroscience, Institute of Psychiatry, 
Psychology and Neuroscience, King's College London, London, UK.
(17)Donders Institute for Brain, Cognition and Behaviour, Radboud University 
Medical Centre, Nijmegen, The Netherlands.
(18)Department of Neurology, Salford Royal NHS Foundation Trust, Manchester, UK.
(19)Department of Genetics, Radboud University Medical Centre, Nijmegen, The 
Netherlands.
(20)West Midlands Regional Clinical Genetics Service and Birmingham Health 
Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, 
Birmingham, UK.
(21)Divisions of Neurology and Human Genetics, Children's Hospital of 
Philadelphia, Philadelphia, PA, USA.
(22)Department of Pathology, University of Gothenburg, Sahlgrenska University 
Hospital, Sweden.
(23)The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital 
Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, 
and Great Ormond Street Hospital Trust, London, UK.
(24)GeneDx, Gaithersburg, 20877 MD, USA.
(25)Mitochondrial Medicine Frontier Program, Division of Human Genetics, 
Children's Hospital of Philadelphia, PA, USA.
(26)Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, 
UK.
(27)Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, 
Oxford, UK.
(28)Department of Neurology, King's College Hospital, London, UK.
(29)Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Trust, 
Exeter, UK.
(30)Division of Pediatric Neurology, The Children's Hospital of Philadelphia, 
Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 
USA.
(31)Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA, 
USA.
(32)Department of Neurology, Center for Rare Diseases Cologne, University 
Hospital Cologne, Cologne, Germany.
(33)College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, 
Qatar.
(34)Department of Genetic Medicine, Weill Cornell Medical College, Doha, Qatar.
(35)School of Health Science, Division Biomedicine and Translational Medicine, 
University of Skovde, Sweden.