Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

被引：61

作者：

Bonneau, Dominique ^{[1
]}

Colin, Estelle ^{[1
]}

Oca, Florine ^{[1
]}

Ferre, Marc ^{[1
]}

Chevrollier, Arnaud ^{[1
]}

Gueguen, Naig ^{[1
]}

Desquiret-Dumas, Valerie ^{[1
]}

N'Guyen, Sylvie ^{[2
]}

Barth, Magalie ^{[1
]}

Zanlonghi, Xavier ^{[3
]}

Rio, Marlene ^{[4
]}

Desguerre, Isabelle ^{[5
]}

Barnerias, Christine ^{[5
]}

Momtchilova, Marta ^{[6
]}

Rodriguez, Diana ^{[7
,8
,9
,10
]}

Slama, Abdelhamid ^{[11
]}

Lenaers, Guy ^{[12
]}

Procaccio, Vincent ^{[1
]}

Amati-Bonneau, Patrizia ^{[1
]}

Reynier, Pascal ^{[1
]}

机构：

[1] CHU Angers, Dept Biochim & Genet, INSERM 1083, Unite Mixte Rech 6214,CNRS, F-49933 Angers, France

[2] CHU Angers, Dept Neuropediat, F-49933 Angers, France

[3] Clin Sourdille, Nantes, France

[4] Hop Necker Enfants Malad, AP HP, Serv Genet Med, Paris, France

[5] Univ Paris 05, Hop Necker, AP HP, Serv Neuropediat, Paris, France

[6] Hop Armand Trousseau, AP HP, Serv Ophtalmol, HUEP, Paris, France

[7] Hop Armand Trousseau, AP HP, Serv Neuropediat, HUEP, Paris, France

[8] Hop Armand Trousseau, Ctr Reference Neurogenet, HUEP, Paris, France

[9] Univ Paris 06, Paris, France

[10] INSERM, U1141, Paris, France

[11] Hop Kremlin Bicetre, AP HP, Lab Biochim, Paris, France

[12] Hop St Eloi, INSERM, U1051, Inst Neurosci Montpellier, Montpellier, France

来源：

BRAIN | 2014年 / 137卷

关键词：

OPTIC ATROPHY; COMMON;

D O I：

10.1093/brain/awu184

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：4

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