G.P.99 Molecular genetic diagnostics of myotonia congenita and analysis of the effects of mutations in the CLCN1 gene on the structure of the dimeric ClC1 chloride channel
✍ Scribed by Fajkusova, L.; Zı´dková, J.; Paclová, D.; Marek, J.; Voháòka, S.; Hermanová, M.
- Book ID
- 119333938
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 49 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0960-8966
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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