1Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l’Hopital, 75 651 Paris Cedex 13, France
2Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Canada
3CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain
4The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032 USA
5Paediatric Neurology, Vall D’Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), 08035 Barcelona, Spain
6Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK
7Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany
8Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, Italy
9Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany
10Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany
11German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany
12Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France
13Sorbonne Université, AP-HP, INSERM, Centre de Référence Des Maladies Neuromusculaires Nord/Est, Ile de France, Paris, France
14Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, England
15Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK
16EURORDIS – Rare Diseases Europe, Paris, France
17Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge and MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK
18Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany
19Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada
20Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada