Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia.

Stephan Johannsen,Susan Treves,Clemens R Müller, Susanne Mögele,Daniel Schneiderbanger,Norbert Roewer,Frank Schuster

Neuromuscular Disorders（2016）

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摘要

•Causative RYR1 mutations allow diagnosis of susceptibility to malignant hyperthermia.•The RYR1 mutation p.Arg4737Trp has been recently detected in a German MH family.•Functional properties of p.Arg4737Trp are consistent with malignant hyperthermia susceptibility.

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关键词

Malignant hyperthermia,In vitro contracture test,Ryanodine receptor,Mutation,Calcium release, 4-chloro-m-cresol

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