Article
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
Annals of neurology - 1 Nov 2002
Klein Christine, Liu Liu, Doheny Dana, Kock Norman, Müller Birgitt, de Carvalho Aguiar Patricia, Leung Joanne, de Leon Deborah, Bressman Susan B, Silverman Jeremy, Smith Christopher, Danisi Fabio, Morrison Chris, Walker Ruth H, Velickovic Miodrag, Schwinger Eberhard, Kramer Patricia L, Breakefield Xandra O, Brin Mitchell F, Ozelius Laurie J
Abstract excerpt
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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