Article
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
Human mutation - 1 Aug 2002
Robinson Rachel L, Brooks Collin, Brown Sarah L, Ellis F Richard, Halsall P Jane, Quinnell Rupert J, Shaw Marie-Anne, Hopkins Philip M
Abstract excerpt
Malignant hyperthermia (MH) and central core disease (CCD) are autosomal dominant disorders of skeletal muscle. Susceptibility to MH is only apparent after exposure to volatile anesthetics and/or depolarizing muscle relaxants. CCD patients present with diffuse muscular weakness but are also at risk of MH. Mutations in RYR1 (19q13.1), encoding a skeletal muscle calcium release channel (ryanodine receptor), account...
Topics
- Anesthetics, Inhalation
- Caffeine
- Central Nervous System Stimulants
- Exons
- Female
- Halothane
- Humans
- In Vitro Techniques
- Male
- Malignant Hyperthermia
- Muscle, Skeletal
- Mutation
- Myopathy, Central Core