Article
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.
Human molecular genetics - 12 Jun 2000
Brown R L, Pollock A N, Couchman K G, Hodges M, Hutchinson D O, Waaka R, Lynch P, McCarthy T V, Stowell K M
Abstract excerpt
Malignant hyperthermia (MH) is a pharmacogenetic disorder that predisposes to a sometimes fatal hypermetabolic reaction to halogenated anaesthetics. MH is considered to originate from abnormal regulation of skeletal muscle Ca(2+) release. Current diagnosis of MH susceptibility (MHS) relies on in vitro contracture testing (IVCT) of skeletal muscle. The ryanodine receptor (RYR1) encoding the major Ca(2+) release...
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