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Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia

โœ Scribed by Ryogen Sasaki; Hidenori Ichiyasu; Nobuo Ito; Teruaki Ikeda; Hiroki Takano; Takeshi Ikeuchi; Shigeki Kuzuhara; Makoto Uchino; Shoji Tsuji; Eiichiro Uyama


Book ID
117671065
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
387 KB
Volume
9
Category
Article
ISSN
0960-8966

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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