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