RYR1(redirected from Skeletal muscle-type ryanodine receptor)
RYR1A 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.
RYR1 mutations are linked to malignant hyperthermia susceptibility, central core disease and minicore myopathy with external ophthalmoplegia.
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