||likely severe central core disease
||common in clinvar
rs63749869, aka p.Arg4861His or p.R4861H, is a SNP in the RYR1 gene associated with central core disease as well as a congenital neuromuscular disease.
[PMID 11709545] Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
[PMID 11741831] Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.
[PMID 17538032] Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.
[PMID 16621918] Central core disease is due to RYR1 mutations in more than 90% of patients.
[PMID 17081152] Malignant hyperthermia and central core disease causative mutations in Swedish patients.
[PMID 17226826] Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
[PMID 17483490] Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.