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Article

Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia.

British journal of anaesthesia - 1 Jan 2013

Schiemann A H, Dürholt E M, Pollock N, Stowell K M

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disorder in which intracellular calcium homeostasis in the skeletal muscle of susceptible individuals is disrupted upon exposure to halogenated anaesthetics. While MH is linked to the ryanodine receptor (RYR1) on chromosome 19 and the α1S subunit of the voltage-dependent L-type calcium channel (CACNA1S) on chromosome 1, mutations have...

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Source

Identifiers

PMID: 23035052
DOI: 10.1093/bja/aes341

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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