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