Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

doi:10.1093/bja/86.2.283

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Article

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

British journal of anaesthesia - 1 Feb 2001

Urwyler A, Deufel T, McCarthy T, West S

Abstract excerpt

Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disease triggered by several anaesthetic agents. The in vitro muscle contracture test (IVCT) is the standard test to establish an individual's risk of susceptibility to MH. Clinical practitioners and geneticists of the European MH Group have agreed on the present guidelines for the detection of MH susceptibility using molecular genetic techniques...

Topics

DNA Mutational Analysis
Genetic Predisposition to Disease
Genetic Testing
Humans
Malignant Hyperthermia
Muscle Contraction
Ryanodine Receptor Calcium Release Channel

Source

Open in PubMed

Identifiers

PMID: 11573677
DOI: 10.1093/bja/86.2.283

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