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Article

A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.

British journal of anaesthesia - 1 Dec 2020

Ibarra Moreno Carlos A, Kraeva Natalia, Zvaritch Elena, Figueroa Lourdes, Rios Eduardo, Biesecker Leslie, Van Petegem Filip, Hopkins Philip M, Riazi Sheila

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) susceptibility is an inherited condition, diagnosed either by the presence of a pathogenic genetic variant or by in vitro caffeine-halothane contracture testing. Through a multi-dimensional approach, we describe the implications of discordance between genetic and in vitro test results in a patient with a family history of possible MH. METHODS: The patient, whose brother had...

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

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Identifiers

PMID: 32861507
DOI: 10.1016/j.bja.2020.07.042
PMCID: PMC7729844

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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