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Article

The role of CACNA1S in predisposition to malignant hyperthermia.

BMC medical genetics - 13 Oct 2009

Carpenter Danielle, Ringrose Christopher, Leo Vincenzo, Morris Andrew, Robinson Rachel L, Halsall P Jane, Hopkins Philip M, Shaw Marie-Anne

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is an inherited pharmacogenetic disorder of skeletal muscle, characterised by an elevated calcium release from the skeletal muscle sarcoplasmic reticulum. The dihydropyridine receptor (DHPR) plays an essential role in excitation-contraction coupling and calcium homeostasis in skeletal muscle. This study focuses on the gene CACNA1S which encodes the alpha1 subunit of the...

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Source

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Identifiers

PMID: 19825159
DOI: 10.1186/1471-2350-10-104
PMCID: PMC2770053

Genes

RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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The role of CACNA1S in predisposition to malignant hyperthermia.PMID 19825159Read ↗

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Using exome data to identify malignant hyperthermia susceptibility mutations.Semantic proximity Read ↗

Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families.Semantic proximity Read ↗

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Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.Semantic proximity Read ↗

Increasing the number of diagnostic mutations in malignant hyperthermia.Semantic proximity Read ↗

No evidence of mutations in the CACNA1S gene in the UK malignant hyperthermia population.Semantic proximity Read ↗

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A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.Semantic proximity Read ↗

Clinical and Genetic Characterization of a Novel RYR1 Variant (p.Gln474His) in Malignant Hyperthermia Susceptibility.Semantic proximity Read ↗

Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat IllnessSemantic proximity Read ↗

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