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Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism

✍ Scribed by Patricia de Carvalho Aguiar; Kathleen J Sweadner; John T Penniston; Jacek Zaremba; Liu Liu; Marsha Caton; Gurutz Linazasoro; Michel Borg; Marina A.J Tijssen; Susan B Bressman; William B Dobyns; Allison Brashear; Laurie J Ozelius


Book ID
116781990
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
365 KB
Volume
43
Category
Article
ISSN
0896-6273

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ATP1A3 mutation in the first asian case
✍ Jee-Young Lee; Seema Gollamudi; Laurie J. Ozelius; Ji-Young Kim; Beom S. Jeon 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 1 views

## Abstract We report a 38‐year‐old Korean man with sporadic rapid‐onset dystonia‐parkinsonism (RDP), who had a Thr 618 Met mutation in the Na^+^/K^+^‐ATPase α3 subunit gene (__ATP1A3__). At the age of 21, he acutely developed severe dystonia and parkinsonism, which rapidly deteriorated into a whee