Muscular dystrophy, congenital, megaconial type
Alternate names[edit | edit source]
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect; Megaconial congénital muscular dystrophy; Congenital megaconial myopathy; Congenital muscular dystrophy with mitochondrial structural abnormalities; Megaconial congenital muscular dystrophy
Summary[edit | edit source]
- 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.
NIH genetic and rare disease info[edit source]
Muscular dystrophy, congenital, megaconial type is a rare disease.
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