megaconial type congenital muscular dystrophy (DOID:0110632)
Alliance: disease page
Synonyms: congenital megaconial myopathy; congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect; congenital muscular dystrophy with mitochondrial structural abnormalities; megaconial congenital muscular dystrophy
Alt IDs: OMIM:602541, ICD10CM:G71.2, ORDO:280671
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.