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