Genetics of malignant hyperthermia.

doi:10.1100/tsw.2006.289

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Article

Genetics of malignant hyperthermia.

TheScientificWorldJournal - 28 Dec 2006

Brandom Barbara W

Abstract excerpt

Study of the genetics of the malignant hyperthermia syndrome began in families in which both malignant hyperthermia (MH) episodes had been experienced and individuals had strongly positive contracture tests diagnostic of susceptibility to MH. Linkage studies associated this MH phenotype to the ryanodine receptor gene (RYR1) at chromosome 19q13.1 in many families. Although the MH phenotype is not always linked to...

Topics

Animals
Calcium
Disease Models, Animal
Genetic Linkage
Genetic Predisposition to Disease
Humans
Malignant Hyperthermia
Muscle, Skeletal
Phenotype
Ryanodine Receptor Calcium Release Channel
Swine

Source

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Identifiers

PMID: 17195870
DOI: 10.1100/tsw.2006.289
PMCID: PMC5917193

Genes

RYR1

Provenance

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