OBO ID: DOID:0110632
Term Name: megaconial type congenital muscular dystrophy Search Ontology:
Synonyms:
  • 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:
Ontology: Human Disease   (DOID:0110632)
OTHER megaconial type congenital muscular dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHKB Muscular dystrophy, congenital, megaconial type 602541
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None