Article
Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia.
Neurology - 14 Mar 2006
Gerrits M C F, Foncke E M J, de Haan R, Hedrich K, van de Leemput Y L C, Baas F, Ozelius L J, Speelman J D, Klein C, Tijssen M A J
Abstract excerpt
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...
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