A Mutation in Autosomal Dominant Myotonia Congenita Affects Pore Properties of the Muscle Chloride Channel
โ Scribed by Christoph Fahlke, Carol L. Beck and Alfred L. George
- Book ID
- 123640506
- Publisher
- National Academy of Sciences
- Year
- 1997
- Tongue
- English
- Weight
- 961 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0027-8424
- DOI
- 10.2307/41708
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๐ SIMILAR VOLUMES
## 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