Article
A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype.
Acta paediatrica (Oslo, Norway : 1992) - 1 Feb 2012
Tedroff Kristina, Rolfs Arndt, Norling Andreas
Abstract excerpt
BACKGROUND: Myoclonus dystonia is an autosomal dominant dystonia-plus syndrome, characterized by symptom variability within families. Most often is the myoclonus the most debilitating symptom, and many patients report myoclonus reduction after alcohol intake. In several families, mutations in the SGCE gene have been identified. METHOD: We report of a three-generation family with myoclonus dystonia displaying a...
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