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
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Exon 17 skipping in CLCN1 leads to recessive myotonia congenita
β Scribed by Lie Chen; Martin Schaerer; Zen H. Lu; Doris Lang; Franziska Joncourt; Joachim Weis; Juerg Fritschi; Lilianne Kappeler; Sabina Gallati; Erwin Sigel; Jean-Marc Burgunder
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 161 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0148-639X
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