Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia

被引：9
|
作者：
Delamarre, A. [1 ,2 ]
Chelly, J. [3 ,4 ,5 ]
Guehl, D. [1 ,2 ]
Drouot, N. [3 ]
Tranchant, C. [3 ,4 ,6 ]
Anheim, M. [3 ,4 ,6 ]
Burbaud, P. [1 ,2 ]
机构：
[1] CHU Bordeaux, Dept Neurosci Clin, Pl Amelie Raba Leon, F-33076 Bordeaux, France
[2] Univ Bordeaux, CNRS, UMR 5293, Inst Malad Neurodegenerat, 146 Rue Leo Saignat, F-33076 Bordeaux, France
[3] Unistra, CNRS, UMR 7104, IGBMC,Inserm,U1258, Illkirch Graffenstaden, France
[4] Univ Strasbourg, Federat Med Translat Strasbourg, Strasbourg, France
[5] Hop Univ Strasbourg, Nouvel Hop Civil, Lab Diagnost Genet, Strasbourg, France
[6] Hop Univ Strasbourg, Dept Neurol, Strasbourg, France
来源：
PARKINSONISM & RELATED DISORDERS | 2019年 / 64卷
关键词：
Myoclonic dystonia; Anoctamin-3; Early-onset dystonia; ANO3; PATIENT; SPECTRUM; GENE;
D O I：
10.1016/j.parkreldis.2019.04.019
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：346 / 348
页数：3
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