Article
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.
Neuromuscular disorders : NMD - 1 Sept 2001
Sambuughin N, Nelson T E, Jankovic J, Xin C, Meissner G, Mullakandov M, Ji J, Rosenberg H, Sivakumar K, Goldfarb L G
Abstract excerpt
Malignant hyperthermia is a pharmacogenetic disorder associated with mutations in Ca(2+) regulatory proteins. It manifests as a hypermetabolic crisis triggered by commonly used anesthetics. Malignant hyperthermia susceptibility is a dominantly inherited predisposition to malignant hyperthermia that can be diagnosed by using caffeine/halothane contracture tests. In a multigenerational North American family with a...
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