Article
Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia.
Archives of neurology - 1 Jun 2011
Beukers Richard J, Foncke Elisabeth M J, van der Meer Johan N, Veltman Dick J, Tijssen Marina A J
Abstract excerpt
BACKGROUND: Myoclonus-dystonia is an autosomal dominantly inherited movement disorder, clinically characterized by myoclonic jerks and dystonic postures or movements. A previous functional magnetic resonance imaging study showed altered cortical activation patterns in clinically affected SGCE mutation carriers when compared with controls consistent with defective sensorimotor integration. Genetically, the...
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