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...
Topics
- Adolescent
- Adult
- Chloride Channels
- Electromyography
- Electrophysiology
- Female
- Genes, Dominant
- Humans
- Male
- Middle Aged
- Mutation
- Myotonia