GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

被引：23

作者：

Fan, Zheng ^{[1
]}

Greenwood, Robert ^{[1
]}

Felix, Ana C. G. ^{[1
]}

Shiloh-Malawsky, Yael ^{[1
]}

Tennison, Michael ^{[1
]}

Roche, Myra ^{[1
]}

Crooks, Kristy ^{[1
]}

Weck, Karen ^{[1
]}

Wilhelmsen, Kirk ^{[1
]}

Berg, Jonathan ^{[1
]}

Evans, James ^{[1
]}

机构：

[1] Univ N Carolina, Chapel Hill, NC 27515 USA

来源：

JOURNAL OF NEUROLOGY | 2014年 / 261卷 / 03期

关键词：

DOPA-RESPONSIVE DYSTONIA; GTP-CYCLOHYDROLASE I; FAMILY; GENE;

D O I：

10.1007/s00415-014-7265-3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：622 / 624

页数：3

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