Article
Molecular genetic testing for malignant hyperthermia susceptibility.
Anesthesiology - 1 May 2004
Girard Thierry, Treves Susan, Voronkov Evgueni, Siegemund Martin, Urwyler Albert
Abstract excerpt
BACKGROUND: For more than 30 yr, the in vitro contracture test (IVCT) was the only appropriate diagnostic tool for malignant hyperthermia (MH). After the introduction of molecular genetics into MH research, guidelines for molecular genetic diagnosis of MH susceptibility were published. The aim of this study was to establish applicability of the guidelines, sensitivity, and specificity of genetic testing in MH and...
Topics
- Anesthesia, Conduction
- Confidence Intervals
- Genetic Predisposition to Disease
- Humans
- Malignant Hyperthermia
- Molecular Diagnostic Techniques
- Muscle Contraction
- Mutation
- Polymerase Chain Reaction
- Restriction Mapping