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.

Synonyms

congenital megaconial myopathy
congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect

Cross References

Parent Terms

Child Terms

None

Sources of Associations

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megaconial type congenital muscular dystrophy

megaconial type congenital muscular dystrophy

Associated Genes

Associated Alleles

Associated Models