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Article

Genetic Testing for Malignant Hyperthermia Susceptibility-Threading the Needle in the Haystack.

Genes - 29 Oct 2025

Saha Anjan K, Pinyavat Teeda

Abstract excerpt

Malignant hyperthermia (MH) is a rare pharmacogenetic disorder triggered by volatile anesthetics and succinylcholine, most often linked to pathogenic variants in RYR1, CACNA1S, and STAC3. The advent of next-generation sequencing (NGS) has transformed MH diagnostics, offering new opportunities for perioperative risk assessment as caffeine-halothane contracture testing declines. However, challenges remain,...

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Source

Open in PubMed Open full text

Identifiers

PMID: 41300733
DOI: 10.3390/genes16111281
PMCID: PMC12652516

Genes

CACNA1S
RYR1
STAC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

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