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Article

Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility.

Cell calcium - 1 Sept 2014

Roesl Cornelia, Sato Keisaku, Schiemann Anja, Pollock Neil, Stowell Kathryn M

Abstract excerpt

Malignant hyperthermia (MH) is a pharmacogenetic disorder that manifests in susceptible individuals exposed to volatile anaesthetics. Over 400 variants in the ryanodine receptor 1 (RYR1) have been reported but relatively few have been definitively associated with susceptibility to MH. This is largely due to the technical challenges of demonstrating abnormal Ca(2+) release from the sarcoplasmic reticulum. This...

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Source

Identifiers

PMID: 25086907
DOI: 10.1016/j.ceca.2014.07.004

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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