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