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A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization

โœ Scribed by Akira Tsujino; Muneshige Kaibara; Hideki Hayashi; Hiroto Eguchi; Susumu Nakayama; Katsuya Sato; Taku Fukuda; Yohei Tateishi; Susumu Shirabe; Kohtaro Taniyama; Atsushi Kawakami


Book ID
116773040
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
974 KB
Volume
494
Category
Article
ISSN
0304-3940

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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