Article
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).
European journal of human genetics : EJHG - 1 Oct 2015
Domingo Aloysius, Westenberger Ana, Lee Lillian V, Brænne Ingrid, Liu Tian, Vater Inga, Rosales Raymond, Jamora Roland Dominic, Pasco Paul Matthew, Cutiongco-Dela Paz Eva Maria, Freimann Karen, Schmidt Thomas Gpm, Dressler Dirk, Kaiser Frank J, Bertram Lars, Erdmann Jeanette, Lohmann Katja, Klein Christine
Abstract excerpt
X-linked recessive dystonia-parkinsonism is a rare movement disorder that is highly prevalent in Panay Island in the Philippines. Earlier studies identified seven different genetic alterations within a 427-kb disease locus on the X chromosome; however, the exact disease-causing variant among these is still not unequivocally determined. To further investigate the genetic cause of this disease, we sequenced all...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.