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Novel mutations in the muscle chloride channelCLCN1gene causing myotonia congenita in Spanish families

✍ Scribed by C. de Diego; J. Gámez; E. Plassart-Schiess; A. Lasa; E. Del Río; C. Cervera; M. Baiget; P. Gallano; B. Fontaine

Book ID
106095915
Publisher
Springer
Year
1999
Tongue
English
Weight
120 KB
Volume
246
Category
Article
ISSN
0340-5354

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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