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Article

Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree.

Journal of medical genetics - 1 Jan 1996

Healy J M, Quane K A, Keating K E, Lehane M, Heffron J J, McCarthy T V

Abstract excerpt

Malignant hyperthermia (MH) is an inherited skeletal muscle disorder and is one of the major causes of death resulting from anaesthesia. MH is currently diagnosed by the in vitro contracture test performed on a muscle biopsy. Genetic linkage analysis on an Irish MH pedigree showed that when the thresholds for the standardised European protocol for MHS diagnosis was applied, linkage between the MHS phenotype and...

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Identifiers

PMID: 8825043
DOI: 10.1136/jmg.33.1.18
PMCID: PMC1051806

Genes

RYR1

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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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