1. Neurology Department, Hospital de Egas MonizCentro Hospitalar de Lisboa Ocidental Lisbon Portugal
2. Neuropediatric and Neuropathology DepartmentsNational Pediatric Hospital J‐P‐Garrahan Buenos Aires Argentina
3. Unité de Morphologie Neuromusculaire, Institut de MyologieSorbonne University, INSERM UMR 974, Groupe Hospitalier Universitaire La Pitié‐Salpêtrière 75013 Paris France
4. Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire)INSERM U1258, CNRS UMR7104, Université de Strasbourg Illkirch France
5. Department of GeneticsHospital Sant Pau and CIBERER Barcelona Spain
6. Department of Clinical and Molecular Genetics and Rare Diseases DivisionHospital Vall d'Hebron and CIBERER Barcelona Spain