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