Article
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.
Genomics - 1 Sept 1994
Quane K A, Keating K E, Healy J M, Manning B M, Krivosic-Horber R, Krivosic I, Monnier N, Lunardi J, McCarthy T V
Abstract excerpt
The ryanodine receptor gene (RYR1) has been shown to be mutated in a small number of malignant hyperthermia (MH) pedigrees. Missense mutations in this gene have also been identified in two families with central core disease (CCD), a rare myopathy closely associated with MH. In an effort to identify other RYR1 mutations responsible for MH and CCD, we used a SSCP approach to screen the RYR1 gene for mutations in a...
Topics
- Amino Acid Sequence
- Base Sequence
- Calcium Channels
- Cardiomyopathy, Hypertrophic
- Chromosomes, Human, Pair 19
- DNA Mutational Analysis
- Female
- Genes
- Genetic Linkage
- Genetic Predisposition to Disease