Article
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
Movement disorders : official journal of the Movement Disorder Society - 1 Oct 2014
Zech Michael, Castrop Florian, Schormair Barbara, Jochim Angela, Wieland Thomas, Gross Nadine, Lichtner Peter, Peters Annette, Gieger Christian, Meitinger Thomas, Strom Tim M, Oexle Konrad, Haslinger Bernhard, Winkelmann Juliane
Abstract excerpt
Recessive DYT16 dystonia associated with mutations in PRKRA has until now been reported only in seven Brazilian patients. The aim of this study was to elucidate the genetic cause underlying disease in a Polish family with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism, and to explore further the role of PRKRA in a dystonia series of European ancestry. We employed whole-exome...
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