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A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog

โœ Scribed by Daniel F. Finnigan; W.J. Brad Hanna; Roberto Poma; Andrew J. Bendall

Book ID
118094695
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
683 KB
Volume
21
Category
Article
ISSN
0891-6640

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Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia) and caused by mutations in the chloride channel voltage-sensitive 1 (CLCN1) gene, encoding the voltage-gated chloride channel of skeletal muscle (ClC-1). In a large cohort of cli

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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