Article
The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology.
Muscle & nerve - 1 Sept 1998
Wagner S, Deymeer F, Kürz L L, Benz S, Schleithoff L, Lehmann-Horn F, Serdaroğlu P, Ozdemir C, Rüdel R
Abstract excerpt
Clinical, electrophysiological, and molecular findings are reported for a family with dominant myotonia congenita in which all affected members have experienced long-term fluctuations of the symptom of myotonia. In some patients myotonia is combined with myalgia. The myotonia-causing mutation in this family is in the gene encoding the muscular chloride channel, hCIC-1, predicting the amino acid exchange G200R. We...
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