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

doi:10.1097/00000542-199703000-00014

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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 w...

Topics

Adolescent
Adult
Alleles
Amino Acid Sequence
Animals
Arginine
Calcium Channels
Child
Consanguinity
Creatine Kinase
Cysteine
DNA, Complementary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Disease Susceptibility

Female

Genetic Linkage

Heterozygote

Homozygote

Humans

Source

Open in PubMed

Identifiers

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

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9066328-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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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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