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Article

Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing.

PloS one - 1 Jan 2014

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

Abstract excerpt

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 dopa-responsive dystonia pedigrees. One pedigree, presented with prominent parkinsonism, was misdiagnosed as...

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Identifiers

PMID: 25181484
DOI: 10.1371/journal.pone.0106388
PMCID: PMC4152247

Genes

GCH1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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