Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Disease Synonyms 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 ORPHA code 280671 OMIM code 602541 ICD10 code G71.2 ICD11 code - *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