Heterozygous OPA1 mutations in Behr syndrome

被引：28

作者：

Marelli, Cecilia ^{[1
,2
,3
,4
]}

Amati-Bonneau, Patrizia ^{[5
]}

Reynier, Pascal ^{[5
]}

Layet, Valerie ^{[6
]}

Layet, Antoine ^{[7
]}

Stevanin, Giovanni ^{[1
,2
,3
,4
]}

Brissaud, Etienne ^{[8
]}

Bonneau, Dominique ^{[5
]}

Durr, Alexandra ^{[1
,2
,3
,4
]}

Brice, Alexis ^{[1
,2
,3
,4
]}

机构：

[1] Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, Paris, France

[2] INSERM, U975, Paris, France

[3] CNRS, UMR 7225, Paris, France

[4] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France

[5] Ctr Hosp Univ, Dept Biochim & Genet, Angers, France

[6] Grp Hosp Havre, Dept Genet Med & Cytogenet, Le Havre, France

[7] Grp Hosp Havre, Dept Neurol, Le Havre, France

[8] Hop Lariboisiere, Dept Neurol, F-75475 Paris, France

来源：

BRAIN | 2011年 / 134卷

关键词：

3-METHYLGLUTACONIC ACIDURIA; OPTIC ATROPHY;

D O I：

10.1093/brain/awq306

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：2

共 10 条

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