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Article

Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility.

Human molecular genetics - 17 May 2025

Ying Evan Z, Douglass Amber, Hawari Marwan A, Groom Linda, Stowell Kathryn, Dirksen Robert T, Johnston Jennifer J, Biesecker Leslie G

Abstract excerpt

PURPOSE: Identifying individuals with pathogenic variants for RYR1-related Malignant Hyperthermia Susceptibility (MHS) could reduce morbidity and mortality due to MH reactions. Realization of this goal requires knowledge of variant pathogenicity, and proper weighting of functional assays is important for accurate variant classification. Caffeine-induced Ca2+ release assays can be used to support pathogenicity per...

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Source

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Identifiers

PMID: 40192509
DOI: 10.1093/hmg/ddaf038
PMCID: PMC13031167

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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