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Article

A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.

Clinical genetics - 1 Jul 1995

Fagerlund T H, Islander G, Twetman E R, Berg K

Abstract excerpt

Eight mutations in the gene (the RYR1 gene) encoding the calcium release channel of sarcoplasmic reticulum (SR) in skeletal muscle are so far known to be very closely linked to malignant hyperthermia susceptibility in man and are regarded to be causative. We have examined 41 Swedish families where malignant hyperthermia had occurred in at least one member during anaesthesia, with respect to three of the known...

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Source

Identifiers

PMID: 7586638
DOI: 10.1111/j.1399-0004.1995.tb04047.x

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.PMID 7586638Read ↗

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.Semantic proximity Read ↗

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.Semantic proximity Read ↗

RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility.Semantic proximity Read ↗

The genetic basis of malignant hyperthermia.Semantic proximity Read ↗

The genetic basis of malignant hyperthermia.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 ↗

A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia.Semantic proximity Read ↗

[Malignant hyperthermia--a hereditary and potentially life-threatening condition].Semantic proximity Read ↗

Malignant hyperthermia susceptibility, an autosomal dominant disorder?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 ↗

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

Screening for mutations in the RYR1 gene in families with malignant hyperthermia.Semantic proximity Read ↗

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