RYR1
RYR1
A gene on chromosome 19q13.1 that encodes a ryanodine receptor found in skeletal muscle, which acts as a calcium channel connecting the sarcoplasmic reticulum and transverse tubules.Molecular pathology
RYR1 mutations are linked to malignant hyperthermia susceptibility, central core disease and minicore myopathy with external ophthalmoplegia.