megaconial type congenital muscular dystrophy

Term ID

DOID:0110632

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. (2)

References

• ICD10CM:G71.2
• OMIM:602541
• ORDO:280671

Ontology

Human Disease   ( DOID:0110632 )