| Metadata | |
|---|---|
| ID | DOID:0110632 |
| Name | megaconial type 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. https://www.ncbi.nlm.nih.gov/pubmed/16371353, https://www.ncbi.nlm.nih.gov/pubmed/21665002 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital megaconial myopathy [EXACT] congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect [EXACT] congenital muscular dystrophy with mitochondrial structural abnormalities [EXACT] megaconial congenital muscular dystrophy [EXACT] |
| Parent Relationships |