Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel
β Scribed by Michael Pusch; Klaus Steinmeyer; Manuela C. Koch; Thomas J. Jentsch
- Book ID
- 116157123
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 931 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0896-6273
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## Myotonia congenita (MC) is a genetic disease characterized by mutations in the CLCN1 gene (OMIM\*118425) encoding the skeletal muscle voltage-gated chloride channel (ClC-1). Autosomal dominant and recessive forms are observed, characterized by impaired muscle relaxation after forceful contractio
Autosomal dominant myotonia congenita or Thomsen's disease (OMIM\* 160800) and autosomal recessive myotonia congenita or Becker's (OMIM\* 255700) are rare nondystrophic disorders due to allelic mutations of the muscle chloride channel gene, CLCN1. We have analysed all 24 exons of the CLCN1 gene, in