Search Ontology:
Human Disease

megaconial type congenital muscular dystrophy

Term ID
DOID:0110632
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models