Article
North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.
Anesthesiology - 1 Sept 2001
Sambuughin N, Sei Y, Gallagher K L, Wyre H W, Madsen D, Nelson T E, Fletcher J E, Rosenberg H, Muldoon S M
Abstract excerpt
BACKGROUND: Malignant hyperthermia (MH) is a disorder of skeletal muscle manifested as a life-threatening hypermetabolic crisis in susceptible individuals after exposure to inhalational anesthetics and depolarizing muscle relaxants. Mutations in the gene encoding the skeletal muscle ryanodine receptor (RYR1) are considered a common cause of the disorder, and, to date, more than 20 RYR1 mutations have been...
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