Article
Putative malignant hyperthermia mutation CaV1.1-R174W is insufficient to trigger a fulminant response to halothane or confer heat stress intolerance.
The Journal of biological chemistry - 1 Aug 2023
Feng Wei, Lopez Jose R, Antrobus Shane, Zheng Jing, Uryash Arkady, Dong Yao, Beqollari Donald, Bannister Roger A, Hopkins Philip M, Beam Kurt G, Allen Paul D, Pessah Isaac N
Abstract excerpt
Malignant hyperthermia susceptibility (MHS) is an autosomal dominant pharmacogenetic disorder that manifests as a hypermetabolic state when carriers are exposed to halogenated volatile anesthetics or depolarizing muscle relaxants. In animals, heat stress intolerance is also observed. MHS is linked to over 40 variants in RYR1 that are classified as pathogenic for diagnostic purposes. More recently, a few rare...
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