Human genes for central core disease
Central core disease [DOID:3529]
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.
Synonyms: central core disease, central core disorder, central core syndrome, central core diseases, DOID:3529 ...
Linkouts: OMIM