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Article

Evidence for a spontaneous C1840-T mutation in the RYR1 gene after DNA fingerprinting in a malignant hyperthermia susceptible family.

Naunyn-Schmiedeberg's archives of pharmacology - 1 Oct 2002

Steinfath Markus, Seranski Peter, Singh Surjit, Fiege Marko, Wappler Frank, Schulte Am Esch Jochen, Scholz Jens

Abstract excerpt

Malignant hyperthermia (MH) is a potentially lethal inherited pharmacogenetic syndrome due to a dysfunction of the intracellular calcium regulation of skeletal muscle following administration of volatile anaesthetics and depolarizing muscle relaxants. The ryanodine receptor of skeletal muscle (RYR1), which is an intracellular calcium release channel, has been proposed to be a candidate structure for the MH...

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Source

Identifiers

PMID: 12237752
DOI: 10.1007/s00210-002-0593-3

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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Evidence for a spontaneous C1840-T mutation in the RYR1 gene after DNA fingerprinting in a malignant hyperthermia susceptible family.PMID 12237752Read ↗

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

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

A case of discordance between genotype and phenotype in a malignant hyperthermia family.Semantic proximity Read ↗

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.Semantic proximity Read ↗

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.Semantic proximity Read ↗

Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation.Semantic proximity Read ↗

Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.Semantic proximity Read ↗

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Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.Semantic proximity Read ↗

Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.Semantic proximity Read ↗

Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.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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