Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant

被引：24

作者：

Yoo, Dallah ^{[1
,2
]}

Kim, Han-Joon ^{[1
,2
]}

Lee, Jin Sook ^{[3
]}

Lee, Sangmoon ^{[4
]}

Kim, Soo Yeon ^{[5
]}

Choi, Murim ^{[6
]}

Chae, Jong-Hee ^{[7
]}

Jeon, Beomseok ^{[8
,9
]}

机构：

[1] Seoul Natl Univ, Dept Neurol, 101 Daehakro, Seoul 03080, South Korea

[2] Seoul Natl Univ, Movement Disorder Ctr, Parkinson Study Grp, Neurosci Res Inst,Coll Med, 101 Daehakro, Seoul 03080, South Korea

[3] Gachon Univ Gil, Med Ctr, Dept Genome Med & Sci, Dept Pediat, Incheon, South Korea

[4] Seoul Natl Univ, Coll Med, Dept Biomed Sci, 101 Daehakro, Seoul 03080, South Korea

[5] Seoul Natl Univ, Childrens Hosp, Div Pediat Neurol, Dept Pediat,Coll Med, 101 Daehakro, Seoul 03080, South Korea

[6] Seoul Natl Univ, Coll Med, Dept Biomed Sci, 101 Daehakro, Seoul 03080, South Korea

[7] Seoul Natl Univ, Coll Med, Childrens Hosp, Dept Pediat,Pediat Clin Neurosci Ctr, Seoul 03080, South Korea

[8] Seoul Natl Univ, Dept Neurol, Neurosci Res Inst, Parkinson Study Grp,Coll Med, 101 Daehakro, Seoul 03080, South Korea

[9] Seoul Natl Univ, Movement Disorder Ctr, Parkinson Study Grp, Neuroscience Res Inst,Coll Med, 101 Daehakro, Seoul 03080, South Korea

来源：

PARKINSONISM & RELATED DISORDERS | 2018年 / 50卷

关键词：

ANO3; Generalized dystonia; Myoclonus; Childhood; MUTATIONS;

D O I：

10.1016/j.parkreldis.2018.02.012

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：124 / 125

页数：2

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