|OBO ID: DOID:0110632|
|Term Name:||megaconial type congenital muscular dystrophy||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0110632)|
|is a type of:||
OTHER megaconial type congenital muscular dystrophy PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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