Article
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.
Movement disorders : official journal of the Movement Disorder Society - 30 Oct 2008
Marelli Cecilia, Canafoglia Laura, Zibordi Federica, Ciano Claudia, Visani Elisa, Zorzi Giovanna, Garavaglia Barbara, Barzaghi Chiara, Albanese Alberto, Soliveri Paola, Leone Massimo, Panzica Ferruccio, Scaioli Vidmer, Pincherle Alessandro, Nardocci Nardo, Franceschetti Silvana
Abstract excerpt
Mutations in the epsilon-sarcoglycan (SGCE) gene have been associated with DYT11 myoclonus-dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11-MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all of the patients, and included short (mean 89.1 +/- 13.3...
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