Search Ontology:
Human Disease
megaconial type congenital muscular dystrophy
- Term ID
- DOID:0110632
- Synonyms
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- congenital megaconial myopathy
- congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
- congenital muscular dystrophy with mitochondrial structural abnormalities
- megaconial congenital muscular dystrophy
- Definition
- A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. (2)
- References
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- ICD10CM:G71.2
- MIM:602541
- ORDO:280671
- Ontology
- Human Disease ( DOID:0110632 )
- is a type of
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Genes Involved
Zebrafish Models