ε‐sarcoglycan mutations found in combination with other dystonia gene mutations

25 September 2002

journal article
research article
Published by Wiley in Annals of Neurology

Vol. 52 (5) , 675-679
https://doi.org/10.1002/ana.10358

Abstract

Myoclonus‐dystonia is a movement disorder associated with mutations in the ε‐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.

Keywords

Funding Information

Fritz Thyssen Foundation
Deutsche Forschungsgemeinschaft
Myoclonus Foundation
Dystonia Medical Research Foundation
Bachmann-Strauss Dystonia and Parkinson Foundation, Inc.
CAPES Foundation
NINDS (NS26656, NS28384, NS37409, NS26656, NS28384, NS37409)

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