|OBO ID: DOID:3529|
|Term Name:||central core disease||Search Ontology:|
|Definition:||A congenital structural myopathy that is characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. (2)|
|Ontology:||Human Disease (DOID:3529)|
|is a type of:||
OTHER central core disease PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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