## 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
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Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance
โ Scribed by Plassart-Schiess, E.; Gervais, A.; Eymard, B.; Lagueny, A.; Pouget, J.; Warter, J. M.; Fardeau, M.; Jentsch, T. J.; Fontaine, B.
- Book ID
- 125851633
- Publisher
- Lippincott Williams and Wilkins
- Year
- 1998
- Tongue
- English
- Weight
- 469 KB
- Volume
- 50
- Category
- Article
- ISSN
- 0028-3878
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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