RYR1

(redirected from SKRR)
Also found in: Acronyms.

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.

Mentioned in ?

bent spine syndrome
camptocormia
central core disease
malignant hyperthermia
malignant hyperthermia, susceptibility to, 1
prosternation

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