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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152247/
https://www.ncbi.nlm.nih.gov/pubmed/25181484
http://dx.doi.org/10.1371/journal.pone.0106388

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