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1.267 THE GENOTYPIC-PHENOTYPIC SPECTRUM OF THAP1 DYSTONIA: SYSTEMATIC REVIEW AND DESCRIPTION OF NEW CASES

✍ Scribed by M.S. LeDoux; J. Xiao; S.R. Vemula; Y. Zhao; M. Rudzińska; R.W. Bastian; Z.K. Wszolek; J.A. Van Gerpen; A. Puschmann; D. Momčilović


Book ID
117754695
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
70 KB
Volume
18
Category
Article
ISSN
1353-8020

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✍ Mark Edwards; Nicholas Wood; Kailash Bhatia 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB

## Abstract Since the advent of widespread testing for the presence of the DYT1 gene mutation, the range of phenotypes that have been associated with this genetic abnormality has expanded. We report on 5 DYT1 gene‐positive patients with unusual phenotypes. Two of them had late presentation, one of