Article
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.
Nature genetics - 1 Sept 1993
Quane K A, Healy J M, Keating K E, Manning B M, Couch F J, Palmucci L M, Doriguzzi C, Fagerlund T H, Berg K, Ording H
Abstract excerpt
Central core disease (CCD) of muscle is an inherited myopathy which is closely associated with malignant hyperthermia (MH) in humans. CCD has recently been shown to be tightly linked to the ryanodine receptor gene (RYR1) and mutations in this gene are known to be present in MH. Mutation screening...
Topics
- Adolescent
- Animals
- Calcium Channels
- Child, Preschool
- Genes
- Genetic Linkage
- Humans
- Malignant Hyperthermia
- Mitochondria
- Molecular Sequence Data
- Muscle Proteins
- Mutation
- Myopathies, Nemaline
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Rabbits
- Ryanodine Receptor Calcium Release Channel