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Recessive and dominant human myotonias are due to mutations of a chloride channel

✍ Scribed by Jentsch, T.J.


Book ID
125427612
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
117 KB
Volume
47
Category
Article
ISSN
0753-3322

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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