Article
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.
Human molecular genetics - 1 Mar 1994
Quane K A, Keating K E, Manning B M, Healy J M, Monsieurs K, Heffron J J, Lehane M, Heytens L, Krivosic-Horber R, Adnet P
Abstract excerpt
Malignant hyperthermia (MH) is a potentially fatal autosomal dominant disorder of skeletal muscle and is triggered in susceptible people by all commonly used inhalational anaesthetics. To date, the ryanodine receptor gene (RYR1) has been shown to be mutated in a small number of malignant hyperthe...
Topics
- Base Sequence
- Calcium Channels
- DNA Primers
- Female
- Humans
- Male
- Malignant Hyperthermia
- Molecular Sequence Data
- Muscle Proteins
- Mutation
- Pedigree
- Polymorphism, Genetic
- Ryanodine Receptor Calcium Release Channel