RYR1

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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 ?
In 1991, it was demonstrated that malignant hyperthermia in pigs was caused by a mutation at position 1, 843 of the gene that encode for the ryanodine receptor (locus ryr-1) (Fujii et al., 1991).
(1991) demonstrated that a mutation of ryanodine receptor (locus ryr-1) causes malignant hyperthermia in pigs, which leads to PSE meat, numerous studies have been launched into the field of genetic background and major gene identification for meat quality.