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