Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing

Dopa-responsive dystonia, a rare disorder typically presenting in early childhood with lower limb dystonia and gait abnormality, responds well to levodopa. However, it is often misdiagnosed with the wide spectrum of phenotypes. By exome sequencing, we make a rapid genetic diagnosis for two atypical...

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Autors principals: Sun, Zhan-fang, Zhang, Yu-han, Guo, Ji-feng, Sun, Qi-ying, Mei, Jun-pu, Zhou, Han-lin, Guan, Li-ping, Tian, Jin-yong, Hu, Zheng-mao, Li, Jia-da, Xia, Kun, Yan, Xin-xiang, Tang, Bei-sha
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2014
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4152247/
https://ncbi.nlm.nih.gov/pubmed/25181484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0106388
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