Article
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
Neurogenetics - 1 Dec 2017
Zech Michael, Jech Robert, Wagner Matias, Mantel Tobias, Boesch Sylvia, Nocker Michael, Jochim Angela, Berutti Riccardo, Havránková Petra, Fečíková Anna, Kemlink David, Roth Jan, Strom Tim M, Poewe Werner, Růžička Evžen, Haslinger Bernhard, Winkelmann Juliane
Abstract excerpt
Combined and complex dystonias are heterogeneous movement disorders combining dystonia with other motor and/or systemic signs. Although we are beginning to understand the diverse molecular causes of these disease entities, clinical pattern recognition and conventional genetic workup achieve an etiological diagnosis only in a minority of cases. Our goal was to provide a window into the variable genetic origins and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.