Article
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
Genomics - 1 Nov 1991
Gillard E F, Otsu K, Fujii J, Khanna V K, de Leon S, Derdemezi J, Britt B A, Duff C L, Worton R G, MacLennan D H
Abstract excerpt
Malignant hyperthermia (MH) is a devastating, potentially lethal response to anesthetics that occurs in genetically predisposed individuals. The skeletal muscle ryanodine receptor (RYR1) gene has been linked to porcine and human MH. Furthermore, a Cys for Arg substitution tightly linked to, and p...
Topics
- Adolescent
- Amino Acid Sequence
- Arginine
- Base Sequence
- Caffeine
- Cloning, Molecular
- Cysteine
- Exons
- Female
- Halothane
- Humans
- Male
- Malignant Hyperthermia
- Molecular Sequence Data
- Muscle Proteins
- Mutation