RYR1

(redirected from Skeletal Muscle Ryanodine Receptor)
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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.
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References in periodicals archive ?
Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.
Almost at the same time, the gene encoding the skeletal muscle ryanodine receptor (RYR1) also was mapped to this region and was shown to be tightly linked to MHS (MacLennan et al., 1990).
Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor. Nature 1989;339:439-45.