RYR1

1 article(s) in the watch · Constitutional genetics

RYR1 encodes the sarcoplasmic-reticulum calcium-release channel. Its variants cause malignant hyperthermia susceptibility and congenital myopathies.

InheritanceDominant (malignant hyperthermia); dominant or recessive (myopathies)

Clinical spectrumAnaesthetic malignant hyperthermia, central-core myopathy

ManagementAvoidance of triggering agents (volatiles, succinylcholine); dantrolene availability.

Curated publications

EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders.

RYR1-related disorders (malignant hyperthermia, congenital myopathy, rhabdomyolysis)