Article
Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.
Anesthesiology - 1 Oct 2004
Sei Yoshitatsu, Sambuughin Nyamkhishig N, Davis Edward J, Sachs Daniel, Cuenca Phil B, Brandom Barbara W, Tautz Timothy, Rosenberg Henry, Nelson Thomas E, Muldoon Sheila M
Abstract excerpt
BACKGROUND: Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle, manifested as a life-threatening hypermetabolic crisis after exposure to anesthetics. Type I ryanodine receptor 1 is the primary gene responsible for susceptibility to MH as well as central core disease, a congenital myopathy that predisposes susceptibility to MH. More than 40 mutations in the RyR1 gene cluster in three...
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