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Article

Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.

Movement disorders : official journal of the Movement Disorder Society - 30 Apr 2010

Cao Li, Zheng Lan, Tang Wei-Guo, Xiao Qin, Zhang Ting, Tang Hui-Dong, He Song-Bin, Wang Xi-Jin, Ding Jian-Qing, Chen Sheng-Di

Abstract excerpt

Mutation detection in the guanosine triphosphate cyclohydrolase I gene (GCH1) was performed from 4 female patients with dopa-responsive dystonia (DRD). DNA sequencing revealed the presence of four novel mutations including c.2T>C(M1T), c.239G>A(S80N), c.245T>C(L82P), and IVS5+3 del AAGT. These four mutations were not found in 100 genetically unrelated healthy controls with the same ethnic background band. In all...

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Identifiers

PMID: 20437540
DOI: 10.1002/mds.22646

Genes

GCH1

Variants

Provenance

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