Disease-gene associations mined from literature

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 ...