Anaesthesia and Genetics of the Ryanodine 1 Receptor
The only validated method to characterize the phenotype and to reach a definitive diagnosis of Malignant Hyperthermia Susceptibility (MHS; OMIM *145600), a pharmacogenetic disease linked to the Ryanodine 1 receptor gene (RYR1; OMIM *180901), is an invasive muscle contraction test requiring a muscle biopsy, according to the European (IVCT) protocol or to the North American (CHCT) protocol. The seri