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P.12.9 Electrophysiological characterization of novel CLCN1 mutations found in Korean patients with myotonia congenita

✍ Scribed by Shin, J.H.; Park, Y.E.; Ha, K.; So, I.S.; Kim, D.S.

Book ID: 123390151
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 44 KB
Volume: 23
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2013.06.591

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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