Megaconial congenital muscular dystrophy
Synonyms: Congenital megaconial myopathy | Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect | Congenital muscular dystrophy with mitochondrial structural abnormalities
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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