Novel compound heterozygous mutations in PRKRA cause pure dystonia

被引：14

作者：

Aguiar, Patricia de Carvalho ^{[1
,2
]}

Borges, Vanderci ^{[2
]}

Ferraz, Henrique Ballalai ^{[2
]}

Ozelius, Laurie Jean ^{[3
]}

机构：

[1] Hosp Israelita Albert Einstein, BR-05652901 Sao Paulo, SP, Brazil

[2] Univ Fed Sao Paulo, Dept Neurol & Neurosurg, Sao Paulo, SP, Brazil

[3] Icahn Sch Med Mt Sinai, Genet & Genom Sci & Neurol, New York, NY 10029 USA

来源：

MOVEMENT DISORDERS | 2015年 / 30卷 / 06期

关键词：

DYT16; ONSET;

D O I：

10.1002/mds.26175

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：877 / 878

页数：2

共 5 条

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[2]

DesCarvalho Aguiar P, 2010, MOVEMENT DISORD, V25, P2854

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[4] A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient [J].

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[5] DYT16 Revisited: Exome Sequencing Identifies PRKRA Mutations in a European Dystonia Family [J].

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MOVEMENT DISORDERS, 2014, 29 (12) :1504-1510

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