OBO ID: DOID:0110632 |
Term Name: | megaconial type congenital muscular dystrophy | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0110632 ) |
OTHER megaconial type congenital muscular dystrophy PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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