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Ann Neurol. 2002 Nov;52(5):675-9.

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.

Author information

1
Department of Neurology, Medical University of Lübeck, Lübeck, Germany.

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.

PMID:
12402271
DOI:
10.1002/ana.10358
[Indexed for MEDLINE]

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