Article
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Anesthesia and analgesia - 1 May 2013
Brandom Barbara W, Bina Saiid, Wong Cynthia A, Wallace Tarina, Visoiu Mihaela, Isackson Paul J, Vladutiu Georgirene D, Sambuughin Nyamkhishig, Muldoon Sheila M
Abstract excerpt
BACKGROUND: Mutations in the ryanodine receptor type 1 gene (RYR1) that encodes the skeletal muscle-specific intracellular calcium (Ca(2+)) release channel are a cause of malignant hyperthermia (MH). In this study, we examined RYR1 mutations in a large number of North American MH-susceptible (MHS) subjects without prior genetic diagnosis. METHODS: RYR1 was examined in 120 unrelated MHS subjects from the United...
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