Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation

被引：24
|
作者：
Marce-Grau, Anna [1 ]
Correa, Marta [1 ,2 ]
Isabel Vanegas, Maria [1 ]
Munoz-Ruiz, Teresa [3 ]
Ferrer-Aparicio, Silvia [1 ]
Baide, Heidy [1 ,2 ]
Macaya, Alfons [1 ,2 ]
Perez-Duenas, Belen [1 ,2 ]
机构：
[1] Univ Autonoma Barcelona, Hosp Vall dHebron, Pediat Neurol Res Grp, Barcelona, Spain
[2] Univ Autonoma Barcelona, Fac Med, Unitat Docent Vall dHebron, Barcelona, Spain
[3] Hosp Reg Univ Malaga, Unidad Trastornos Movimiento, Malaga, Spain
来源：
PARKINSONISM & RELATED DISORDERS | 2019年 / 61卷
关键词：
Myoclonus dystonia; KCTD17; SGCE; Deep brain stimulation; Myoclonic dystonia;
D O I：
10.1016/j.parkreldis.2019.01.004
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：7 / 9
页数：3
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