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Article

Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family.

British journal of anaesthesia - 1 Aug 2001

Rueffert H, Olthoff D, Deutrich C, Thamm B, Froster U G

Abstract excerpt

The determination of susceptibility to malignant hyperthermia (MH) by genetic investigation is a controversial issue because of the genetic heterogeneity of this disorder. The requirement for such an approach in MH diagnosis is a strong correlation between MH-associated genetic abnormalities and phenotypic findings in the in vitro contracture test (IVCT). After a severe clinical MH crisis during general...

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Source

Identifiers

PMID: 11493496
DOI: 10.1093/bja/87.2.240

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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Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family.PMID 11493496Read ↗

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Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.Semantic proximity Read ↗

Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?Semantic proximity Read ↗

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Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.Semantic proximity Read ↗

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.Semantic proximity Read ↗

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