Rare neuromuscular diseases Ehlers‐Danlos Syndrome Adult SMA Allele-specific silencing Myopathy Acetyltransferase Myologie Diagnosis Patient registry Dilated cardiomyopathy IPSC Myogenesis Muscular dystrophy MD Actionable gene Allele-specific silencing therapy Errance diagnostique LGMD Cardiomyopathy Calcium handling Cancer Duchenne muscular dystrophy Muscular dystrophy Biological sciences COL6A1 Cardiac conduction system CRISPR Clinical trial Autophagosome maturation LMNA-related congenital muscular dystrophy Myopathies Gene therapy Dynamin 2 CSF protein Regeneration RNA interference Mutations Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS Therapy Becker muscular dystrophy AAV VECTOR Muscle Angiotensin-converting enzyme inhibitors BVES Cardiology Actionability Biomarker LMNA gene Laminopathies A-type lamins Myotubes Emery-Dreifuss muscular dystrophy A-type lamin AAV Angiotensin-converting enzyme inhibitor C elegans Connective tissue Lamin A/C Lamin A/C LMNA gene Heart failure Emerin Nuclear envelope Muscle MRI Mouse Rare diseases Centronuclear myopathy LMNA BiP Titin Hypermobile EDS Joint laxity Congenital muscular dystrophy C2C12 Skeletal muscle Treatment POPDC1 Next generation sequencing Muscle biopsy CMTX Lamin A/C nuclei Exome Treatment delay INPP5K Heart Butyrylcholinesterase Maladies rares et orphelines Dystrophine COL1A1 COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders Base de données FAIR Laminopathy COVID-19 Lamins Maladies rares Allele‐specific silencing therapy Cancer biomarkers GNE Laminopathie Dystrophie musculaire Neuromuscular diseases Alternative splicing