Article
Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.
Canadian journal of anaesthesia = Journal canadien d'anesthesie - 1 Jun 2011
Kraeva Natasha, Riazi Sheila, Loke Julian, Frodis Wanda, Crossan Mary Lou, Nolan Kevin, Kraev Alexander, Maclennan David H
Abstract excerpt
PURPOSE: Malignant hyperthermia (MH) is an autosomal dominant pharmacogenetic disorder that is manifested on exposure of susceptible individuals to halogenated anesthetics or succinylcholine. Since MH is associated primarily with mutations in the ryanodine receptor type 1 (RYR1) gene, the purpose of this study was to determine the distribution and frequency of MH causative RyR1 mutations in the Canadian MH...
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