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Mutation analysis of the CLCN1 gene in ITALIAN patients affected by thomsen myotonia congenita and generalized becker myotonia

✍ Scribed by F. Sangiuolo; A. Botta; A. Mesoraca; L. Merlini; S. Servidei; M. Lo Monaco; P. Tonali; G. Fratta; G. Novelli; B. Dallapiccola


Book ID
116168856
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
115 KB
Volume
6
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