Article
Genetic heterogeneity in ten families with myoclonus-dystonia.
Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2004
Schüle B, Kock N, Svetel M, Dragasevic N, Hedrich K, De Carvalho Aguiar P, Liu L, Kabakci K, Garrels J, Meyer E-M, Berisavac I, Schwinger E, Kramer P L, Ozelius L J, Klein C, Kostic V
Abstract excerpt
BACKGROUND: Myoclonus-dystonia (M-D) is a movement disorder with autosomal dominant inheritance and reduced penetrance but may also occur sporadically. Recently, mutations in the epsilon-sarcoglycan gene (SGCE) were shown to cause M-D. Furthermore, single variants in the dopamine D2 receptor (DRD2) and DYT1 genes were found in combination with SGCE mutations in two M-D families, and another M-D locus was recently...
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