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Article

A case of discordance between genotype and phenotype in a malignant hyperthermia family.

European journal of human genetics : EJHG - 1 Jan 2000

Fortunato G, Carsana A, Tinto N, Brancadoro V, Canfora G, Salvatore F

Abstract excerpt

Malignant hyperthermia (MH) is an inherited autosomal dominant pharmacogenetic disorder and is the major cause of anaesthesia-induced death. Malignant hyperthermia susceptibility is usually diagnosed by the in vitro contracture test (IVCT) performed on fresh muscle biopsies exposed to caffeine and halothane, respectively. Around 50% of affected families are linked to the ryanodine receptor (RYR1) gene. The human...

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Source

Identifiers

PMID: 10352931
DOI: 10.1038/sj.ejhg.5200314

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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A case of discordance between genotype and phenotype in a malignant hyperthermia family.PMID 10352931Read ↗

Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?Semantic proximity Read ↗

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A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.Semantic proximity Read ↗

Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.Semantic proximity Read ↗

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.Semantic proximity Read ↗

Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation.Semantic proximity Read ↗

Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.Semantic proximity Read ↗

Clinical and Genetic Characterization of a Novel RYR1 Variant (p.Gln474His) in Malignant Hyperthermia Susceptibility.Semantic proximity Read ↗

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.Semantic proximity Read ↗

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Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.Semantic proximity Read ↗

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