ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia

We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and chil...

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書誌詳細
主要な著者: BRASHEAR, ALLISON, MINK, JONATHAN, HILL, DEBORAH F, BOGGS, NIKI, MCCALL, W VAUGHN, STACY, MARK, SNIVELY, BEVERLY, LIGHT, L S, SWEADNER, KATHLEEN, OZELIUS, LAURIE J, MORRISON, LESLIE
フォーマット: Artigo
言語:Inglês
出版事項: 2012
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3465467/
https://ncbi.nlm.nih.gov/pubmed/22924536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-8749.2012.04421.x
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