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Article

Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.

Anesthesiology - 1 Mar 1997

Lynch P J, Krivosic-Horber R, Reyford H, Monnier N, Quane K, Adnet P, Haudecoeur G, Krivosic I, McCarthy T, Lunardi J

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is a potentially fatal, often autosomal dominant, disorder of skeletal muscle and is triggered in susceptible people by all commonly used inhalational anesthetics. In this article, the authors describe a malignant hyperthermia susceptible (MHS) kindred in which both parents of the proband are MHS and are first-degree cousins. Haplotype analysis in this kindred with...

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Source

Identifiers

PMID: 9066328
DOI: 10.1097/00000542-199703000-00014

Genes

RYR1

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.

Related research

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Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.PMID 9066328Read ↗

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Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.Semantic proximity Read ↗

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Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.Semantic proximity Read ↗

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.Semantic proximity Read ↗

Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.Semantic proximity Read ↗

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.Semantic proximity Read ↗

Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.Semantic proximity Read ↗

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