Article
Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells.
Anesthesiology - 1 Jul 2013
Sato Keisaku, Roesl Cornelia, Pollock Neil, Stowell Kathryn M
Abstract excerpt
BACKGROUND: Mutations within the gene encoding the skeletal muscle calcium channel ryanodine receptor can result in malignant hyperthermia. Although it is important to characterize the functional effects of candidate mutations to establish a genetic test for diagnosis, ex vivo methods are limited because of the low incidence of the disorder and sample unavailability. More than 250 candidate mutations have been...
Topics
- Calcium
- DNA, Complementary
- Fluorescent Antibody Technique
- HEK293 Cells
- Humans
- Malignant Hyperthermia
- Mutation
- Neuroimaging
- Ryanodine Receptor Calcium Release Channel