Article
Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
Acta anaesthesiologica Scandinavica - 1 Jul 2002
Rueffert Henrik, Olthoff D, Deutrich C, Meinecke C D, Froster U G
Abstract excerpt
BACKGROUND: The ryanodine receptor of the skeletal muscle (RYR1) seems to be of outstanding importance in the pathogenesis of malignant hyperthermia (MH). It has been shown that point mutations in the RYR1 gene are strongly associated with the MH phenotype. A correctly determined phenotype is the basic prerequisite for adequate genetic MH screening. In this study we examined only those MH susceptible patients for...
Topics
- Anesthetics, Inhalation
- Caffeine
- Central Nervous System Stimulants
- Genetic Testing
- Halothane
- Humans
- In Vitro Techniques
- Malignant Hyperthermia
- Muscle Contraction
- Muscles