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Article

Assessing the pathogenicity of RYR1 variants in malignant hyperthermia.

British journal of anaesthesia - 1 Apr 2017

Merritt A, Booms P, Shaw M-A, Miller D M, Daly C, Bilmen J G, Stowell K M, Allen P D, Steele D S, Hopkins P M

Abstract excerpt

BACKGROUND: . Missense variants in the ryanodine receptor 1 gene ( RYR1 ) are associated with malignant hyperthermia but only a minority of these have met the criteria for use in predictive DNA diagnosis. We examined the utility of a simplified method of segregation analysis and a functional assay for determining the pathogenicity of recurrent RYR1 variants associated with malignant hyperthermia. METHODS: . We...

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Identifiers

PMID: 28403410
DOI: 10.1093/bja/aex042
PMCID: PMC6906626

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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