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Early-onset SCA17 with 43TBPrepeats: expanding the phenotype?

✍ Scribed by L. Tremolizzo; N. A. Curtò; L. Marzorati; F. Lanzani; P. Tarantino; G. Annesi; C. Ferrarese


Book ID
106269272
Publisher
Springer Milan
Year
2011
Tongue
English
Weight
191 KB
Volume
32
Category
Article
ISSN
1590-1874

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## Abstract We screened for mutations in the __PARKIN__, __DJ‐1__, and __PINK1__ genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early‐onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in __PARKIN__ (three compound heterozygou