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Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

By M. C. F. Gerrits, E. M. J. Foncke, R. de Haan, K. Hedrich, Y. L. C. van de Leemput, F. Baas, L. J. Ozelius, J. D. Speelman, C. Klein and M. A. J. Tijssen


The epsilon-sarcoglycan (SGCE) gene is an important cause of myoclonus-dystonia (M-D), although the majority of cases with an M-D phenotype test negative. Seven of 31 patients with the M-D phenotype carried a mutation in the SGCE gene. Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carrier

Year: 2006
DOI identifier: 10.1212/01.wnl.0000201192.66467.a3
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Provided by: NARCIS
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