Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

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, M. A.J. Tijssen*

*Corresponding author for this work
33 Citations (Scopus)


The ε-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 carriers.

Original languageEnglish
Issue number5
Pages (from-to)759-761
Number of pages3
Publication statusPublished - 01.03.2006


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