Affiliation: | 1. https://orcid.org/0000-0001-7764-2085;2. Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona, Spain;3. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, SpainLaura Carrera‐García and Daniel Natera‐de Benito contributed equally to this study. Daniel Natera‐de Benito, Passeig Sant Joan de Déu 2, 08950 Esplugues de Llobregat, Barcelona 034‐606058561, Spain.;4. Département de Génétique et Procréation, CHU de Grenoble Alpes, Grenoble Cedex 9, France;5. Neuromuscular Unit, Department of Pediatric Neurology, Intensive Care and Rehabilitation, Raymond Poincaré University Hospital (AP‐HP;6. UVSQ Paris Saclay), Garches, France;7. Department of Medical Radiology, Raymond Poincaré University Hospital (AP‐HP;8. Department of Radiology, Hospital Universitari Sant Joan de Deu, Barcelona, Spain;9. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain;10. Department of Pathology, Hospital Sant Joan de Deu, Barcelona, Spain;11. Confocal Microscopy Unit, Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain;12. Department of Genetic and Molecular Medicine, Hospital Sant Joan de Déu, Barcelona, Spain;13. Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain;14. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain;15. Division of Pediatrics, University of Barcelona School of Medicine, Barcelona, Spain;16. Centro de Investigación Biomédica en Salud Mental (CIBERSAM), Barcelona, Spain;17. Department of Radiology, CHU de Grenoble Alpes, Grenoble, France;18. Department of Neuropediatrics and Muscle Disorders, Medical Center – University of Freiburg, Faculty of Medicine, Freiburg, Germany;19. Centro Nacional de Análisis Genómico (CNAG‐CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain;20. Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada |