DO_rare_slim NCIthesaurus has material basis in autosomal dominant disease autosomal recessive disease congenital myopathy congenital myopathy 1A NCI:C83010 ORDO:597 A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe. GARD:6014 UMLS_CUI:C0751951 ICD10CM:G71.29 disease_ontology SNOMEDCT_US_2025_09_01:43152001 DOID:3529 MESH:D020512 MIM:117000 OMIM mapping confirmed by DO. [SN]. autosomal dominant congenital myopathy 1A central core disease central core myopathy autosomal dominant inheritance autosomal recessive inheritance