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Article

Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia.

Orphanet journal of rare diseases - 19 May 2010

Grievink Hilbert, Stowell Kathryn M

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is a dominantly inherited skeletal muscle disorder that can cause a fatal hypermetabolic reaction to general anaesthetics. The primary locus of MH (MHS1 locus) in humans is linked to chromosome 19q13.1, the position of the gene encoding the ryanodine receptor skeletal muscle calcium release channel (RyR1). METHODS: In this study, an inexpensive allele-specific PCR (AS-PCR)...

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Source

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Identifiers

PMID: 20482855
DOI: 10.1186/1750-1172-5-10
PMCID: PMC2895584

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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Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia.PMID 20482855Read ↗

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