Article
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
American journal of human genetics - 1 Dec 1995
Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch T J, Koch M C
Abstract excerpt
Autosomal dominant myotonia congenita and autosomal recessive generalized myotonia (GM) are genetic disorders characterized by the symptom of myotonia, which is based on an electrical instability of the muscle fiber membrane. Recently, these two phenotypes have been associated with mutations in t...
Topics
- Base Sequence
- Chloride Channels
- Female
- Humans
- Male
- Molecular Sequence Data
- Muscles
- Mutation
- Myotonia
- Pedigree
- Polymorphism, Genetic