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Article

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

Neuromuscular disorders : NMD - 1 Jan 2016

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

Abstract excerpt

Aside from the in vitro contracture test, genetic screening for causative RYR1 mutations is the established procedure to diagnose susceptibility to malignant hyperthermia (MH). However, currently only 34 out of more than 300 known RYR1 mutations have been confirmed to be causative for MH by experimental studies addressing their functional impact on intracellular calcium homeostasis. The RYR1 mutation p.Arg4737Trp...

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Source

Identifiers

PMID: 26631338
DOI: 10.1016/j.nmd.2015.11.001

Genes

RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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