Article
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
European journal of human genetics : EJHG - 1 Dec 2001
Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, Van Ghelue M
Abstract excerpt
Myotonia congenita is a non-dystrophic muscle disorder affecting the excitability of the skeletal muscle membrane. It can be inherited either as an autosomal dominant (Thomsen's myotonia) or an autosomal recessive (Becker's myotonia) trait. Both types are characterised by myotonia (muscle stiffness) and muscular hypertrophy, and are caused by mutations in the muscle chloride channel gene, CLCN1. At least 50...
Topics
- Amino Acid Sequence
- Chloride Channels
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Myotonia Congenita
- Pedigree
- Scandinavian and Nordic Countries