Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers. Disease data Klasyfikacja Disease Synonimy Congenital megaconial myopathy Wrodzona dystrofia mięśni typu megaconial Wrodzona dystrofia mięśniowa z zaburzeniami struktury mitochondriów Wrodzona miopatia typu megaconial Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect Congenital muscular dystrophy with mitochondrial structural abnormalities Kod ORPHA 280671 Kod OMIM 602541 Kod ICD10 G71.2 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl