Epsilon-sarcoglycan Mutations Found in Combination with Other Dystonia Gene Mutations.

Christine Klein, Liu,Dana Doheny,Norman Kock,Birgitt Müller,Patricia de Carvalho Aguiar,Joanne Leung,Deborah de Leon,Susan B Bressman,Jeremy Silverman, Christopher Smith,Fabio Danisi,Chris Morrison,Ruth H Walker,Miodrag Velickovic,Eberhard Schwinger,Patricia L Kramer,Xandra O Breakefield,Mitchell F Brin,Laurie J Ozelius

Annals of neurology（2002）

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Abstract

Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE. The molecular mechanisms through which the detected mutations may contribute to myoclonus-dystonia remain to be determined.

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