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Diagnosis Hypermobile EDS Treatment Treatment delay COL6A1 BiP Allele-specific silencing CSF protein Dynamin 2 Butyrylcholinesterase Joint laxity Muscle biopsy Connective tissue Becker muscular dystrophy LMNA gene Rare diseases Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS Errance diagnostique Skeletal muscle Patient registry Mutations Next generation sequencing GNE IPSC Lamin A/C Laminopathie Titin Calcium handling LGMD Neuromuscular diseases Mouse A-type lamins Angiotensin-converting enzyme inhibitor Base de données FAIR C2C12 CMTX Duchenne muscular dystrophy Myogenesis POPDC1 Nuclear envelope AAV Cancer Cancer biomarkers Allele‐specific silencing therapy Actionable gene Dilated cardiomyopathy BVES Ehlers‐Danlos Syndrome Heart Regeneration COL1A1 Acetyltransferase Clinical trial A-type lamin Myologie Alternative splicing Muscle MRI Congenital muscular dystrophy Muscular dystrophy Actionability Angiotensin-converting enzyme inhibitors Cardiomyopathy COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders CAV3 Maladies rares Centronuclear myopathy Dystrophine Laminopathies Emery-Dreifuss muscular dystrophy Therapy CRISPR Muscular dystrophy MD C elegans INPP5K Lamin A/C nuclei Heart failure Muscle LMNA Lamins Gene therapy LMNA-related congenital muscular dystrophy Allele-specific silencing therapy Emerin Exome Dystrophie musculaire Autophagosome maturation COVID-19 Biological sciences Cardiac conduction system Lamin A/C LMNA gene Myopathies Rare neuromuscular diseases AAV VECTOR Adult SMA Maladies rares et orphelines Myotubes Laminopathy Myopathy Biomarker RNA interference