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Article

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

Genes - 24 Dec 2025

Tracy Erin, Mistretta Katelyn, Bedocs Peter, Vietor Robert, Bera Alakesh

Abstract excerpt

BACKGROUND/OBJECTIVES: Malignant hyperthermia (MH) is a life-threatening pharmacogenetic disorder of skeletal muscle calcium regulation and commonly associated with pathogenic variants in the RYR1 gene. Interpretation of rare RYR1 variants remains challenging, particularly when classified as variants of uncertain significance (VUS). This study describes the clinical, functional, and genetic evaluation of a...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 41595433
DOI: 10.3390/genes17010013
PMCID: PMC12841040

Genes

RYR1
CACNA1S
STAC3

Variants

Provenance

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

Related research

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