Article
Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse.
Anesthesiology - 1 Dec 2006
Yang Tianzhong, Riehl Joyce, Esteve Eric, Matthaei Klaus I, Goth Samuel, Allen Paul D, Pessah Isaac N, Lopez José R
Abstract excerpt
BACKGROUND: Malignant hyperthermia is a pharmacogenetic disorder affecting humans, dogs, pigs, and horses. In the majority of human cases and all cases in animals, malignant hyperthermia has been associated with missense mutations in the skeletal ryanodine receptor (RyR1). METHODS: The authors used a "knock-in" targeting vector to create mice carrying the RyR1 R163C malignant hyperthermia mutation. RESULTS:...
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