Human genes for megaconial type congenital muscular dystrophy
Megaconial type congenital muscular dystrophy [DOID:0110632]
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.
Synonyms: megaconial type congenital muscular dystrophy, DOID:0110632, megaconial type congenital muscular dystrophies, congenital megaconial myopathy, congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect ...