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P156 Exome sequencing in a family with Rapid-onset Dystonia-Parkinsonism

✍ Scribed by K. Zschiedrich; A. Weißbach; K. Isbruch; M. Schwarz; C. Klein; K. Lohmann


Book ID
119192751
Publisher
Elsevier
Year
2011
Tongue
English
Weight
48 KB
Volume
1
Category
Article
ISSN
2210-5336

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Rapid-onset dystonia–parkinsonism: A fou
✍ Jacek Zaremba; Hanna Mierzewska; Zofia Lysiak; Patricia Kramer; Laurie J. Ozeliu 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 71 KB

## Abstract Rapid‐onset dystonia–parkinsonism (RDP, __DYT12__, MIM 128235) is a rare autosomal dominant movement disorder characterized by abrupt onset of slow, dystonic movements and prominent bulbar features. Three families and 1 isolated case have been described in the literature, and linkage to