Term Name:	megaconial type congenital muscular dystrophy
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.
Ontology:	Human Disease [DOID:0110632]   ( DOID:0110632 )