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Article

Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.

Physiological genomics - 1 Feb 2017

Beam Teresa A, Loudermilk Emily F, Kisor David F

Abstract excerpt

A review of the pharmacogenetics (PGt) and pathophysiology of calcium voltage-gated channel subunit alpha1 S (CACNA1S) mutations in malignant hyperthermia susceptibility type 5 (MHS5; MIM #60188) is presented. Malignant hyperthermia (MH) is a life-threatening hypermetabolic state of skeletal muscle usually induced by volatile, halogenated anesthetics and/or the depolarizing neuromuscular blocker succinylcholine....

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Source

Identifiers

PMID: 28011884
DOI: 10.1152/physiolgenomics.00126.2016

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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