NOVEL NDUFS4 GENE MUTATION IN AN ATYPICAL LATE-ONSET MITOCHONDRIAL FORM OF MULTIFOCAL DYSTONIA

被引：5
|
作者：
Bris, Celine [1 ,2 ]
Rouaud, Tiphaine [3 ]
Desquiret-Dumas, Valerie [1 ,2 ]
Gueguen, Naig [1 ,2 ]
Goudenege, David [1 ,2 ]
Barth, Magalie [1 ,2 ]
Bonneau, Dominique [1 ,2 ]
Amati-Bonneau, Patrizia [1 ,2 ]
Lenaers, Guy [1 ,2 ]
Reynier, Pascal [1 ,2 ]
Lebre, Anne-Sophie [4 ]
Procaccio, Vincent [1 ,2 ]
机构：
[1] Angers Univ, Mitovasc Inst, CNRS,INSERM, UMR 6015,U1083, Angers, France
[2] Univ Hosp Angers, Dept Biochem & Genet, Angers, France
[3] Univ Hosp Nantes, Dept Neurol, Nantes, France
[4] Hop Maison Blanche, Pole Biol, Serv Genet, CHU Reims, Paris, France
来源：
NEUROLOGY-GENETICS | 2017年 / 3卷 / 06期
关键词：
LEIGH-SYNDROME; DEFECTS;
D O I：
10.1212/NXG.0000000000000205
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页数：3
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