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Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism

โœ Scribed by Mark P. DeAndrade; Fumiaki Yokoi; Thomas van Groen; Jerry B. Lingrel; Yuqing Li


Book ID
116286076
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
361 KB
Volume
216
Category
Article
ISSN
0166-4328

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ATP1A3 mutation in the first asian case
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## Abstract We report a 38โ€yearโ€old Korean man with sporadic rapidโ€onset dystoniaโ€parkinsonism (RDP), who had a Thr 618 Met mutation in the Na^+^/K^+^โ€ATPase ฮฑ3 subunit gene (__ATP1A3__). At the age of 21, he acutely developed severe dystonia and parkinsonism, which rapidly deteriorated into a whee