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Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

โœ 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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## 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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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