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

页数：3

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