Article
SGCZ mutations are unlikely to be associated with myoclonus dystonia.
Neuroscience - 11 Jul 2014
Peall K J, Ritz K, Waite A J, Groen J L, Morris H R, Baas F, Blake D J, Tijssen M A J
Abstract excerpt
BACKGROUND: Myoclonus dystonia syndrome (MDS) is a hyperkinetic movement disorder caused, in a proportion of cases, by mutations of the maternally imprinted epsilon-sarcoglycan gene (SGCE). SGCE mutation rates vary between cohorts, suggesting genetic heterogeneity. E- and ζ-sarcoglycan are both expressed in brain tissue. In this study we tested whether zeta-sarcoglycan gene (SGCZ) mutations also contribute to...
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