Article
Malignant hyperthermia--a large kindred linked to the RYR1 gene.
Anaesthesia - 1 Jan 1996
Wallace A J, Wooldridge W, Kingston H M, Harrison M J, Ellis F R, Ford P M
Abstract excerpt
Malignant hyperthermia susceptibility is genetically heterogeneous. The ryanodine receptor gene on the long arm of chromosome 19 represents an important candidate gene but not all families with malignant hyperthermia demonstrate ryanodine receptor mutations or linkage to this region of 19q. Linka...
Topics
- Calcium Channels
- Chromosome Mapping
- Chromosomes, Human, Pair 19
- Creatine Kinase
- Female
- Genes
- Genetic Linkage
- Genetic Predisposition to Disease
- Humans
- Male
- Malignant Hyperthermia
- Muscle Proteins
- Pedigree
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid
- Ryanodine Receptor Calcium Release Channel
