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Article

A rare genetic variant of the ryanodine receptor in a suspected malignant hyperthermia susceptible patient.

Journal of clinical anesthesia - 1 Sept 2016

MacKay Emily Jane, Wilkerson Carlos, Kraeva Natalia, Rosenberg Henry, Kennedy Tara

Abstract excerpt

Malignant hyperthermia (MH) remains a diagnostic challenge. This case report describes the anesthetic management of a suspected intraoperative MH episode and the subsequent, genetic sequence analysis of 3 genes associated with MH. The results of the molecular genetic testing revealed heterozygosity for a rare variant, c.12553G>A (p.Ala4185Thr), in the RYR1 gene encoding the ryanodine receptor. Although the RYR1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27555149
DOI: 10.1016/j.jclinane.2016.02.038

Genes

RYR1

Variants

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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