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Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo c.2267G>A (p.R756H) Genetic Mutation.

作者信息

Tan Ai Huey, Ozelius Laurie J, Brashear Allison, Lang Anthony E, Ahmad-Annuar Azlina, Tan Chong Tin, Lim Shen-Yang

机构信息

Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders; and the Department of Biomedical Science Faculty of Medicine University of Malaya Kuala Lumpur Malaysia.

Departments of Genetics and Genomic Sciences and Neurology Mount Sinai School of Medicine New York New York USA.

出版信息

Mov Disord Clin Pract. 2014 Dec 30;2(1):74-75. doi: 10.1002/mdc3.12122. eCollection 2015 Mar.

Abstract
摘要

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本文引用的文献

1
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
PLoS One. 2014 May 19;9(5):e97274. doi: 10.1371/journal.pone.0097274. eCollection 2014.
2
Distinct neurological disorders with ATP1A3 mutations.
Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0.
3
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
Dev Med Child Neurol. 2012 Nov;54(11):1065-7. doi: 10.1111/j.1469-8749.2012.04421.x. Epub 2012 Aug 28.
4
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
Neurology. 2009 Aug 4;73(5):400-1. doi: 10.1212/WNL.0b013e3181b04acd.
5
ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.
Mov Disord. 2007 Sep 15;22(12):1808-9. doi: 10.1002/mds.21638.
6
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Brain. 2007 Mar;130(Pt 3):828-35. doi: 10.1093/brain/awl340. Epub 2007 Feb 4.

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