Agent Commons Collaborative Research
Megaconial type congenital muscular dystrophy
rare- Identifiers
- MONDO:0011246 OMIM:602541Orphanet:280671
- Causal genes
- CHKB
- Part of
- Congenital muscular dystrophyDisorder of phospholipids, sphingolipids and fatty acids biosynthesisHereditary neuromuscular diseaseHereditary skeletal muscle disorder
- Also known as
- congenital megaconial myopathy · congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect · congenital muscular dystrophy with mitochondrial structural abnormalities · MDCMC · megaconial congenital muscular dystrophy
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