PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family

被引：29

作者：

Quadri, Marialuisa ^{[1
]}

Olgiati, Simone ^{[1
]}

Sensi, Mariachiara ^{[2
]}

Gualandi, Francesca ^{[3
]}

Groppo, Elisabetta ^{[4
]}

Rispoli, Vittorio ^{[4
]}

Graafland, Josja ^{[1
]}

Breedveld, Guido J. ^{[1
]}

Fabbrini, Giovanni ^{[5
,6
]}

Berardelli, Alfredo ^{[5
,6
]}

Bonifati, Vincenzo ^{[1
]}

机构：

[1] Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands

[2] Univ Hosp Arcispedale S Anna, Dept Neurol & Rehabil, Ferrara, Italy

[3] Univ Hosp S Anna, Dept Reprod & Growth, UOL Med Genet, Ferrara, Italy

[4] Univ Hosp Arcispedale S Anna, Dept Biomed & Specialist Surg Sci, Ferrara, Italy

[5] Univ Roma La Sapienza, Dept Neurol & Psychiat, Pozzilli, Italy

[6] IRCSS Neuromed, Pozzilli, Italy

来源：

MOVEMENT DISORDERS | 2016年 / 31卷 / 05期

关键词：

dystonia; parkinsonism; genetics; DYT16; founder mutation;

D O I：

10.1002/mds.26583

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：765 / 767

页数：3

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

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