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

共 50 条

[1] Early-onset Behr syndrome due to compound heterozygous mutations in OPA1
Bonneau, D.
Lenaers, G.
Procaccio, V.
Amati-Bonneau, P.
Reynier, P.
ACTA OPHTHALMOLOGICA, 2015, 93
[2] Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1
Yu-Wai-Man, Patrick
Chinnery, Patrick F.
BRAIN, 2014, 137
[3] Heterozygous OPA1 mutations in Behr syndrome
Marelli, Cecilia
Amati-Bonneau, Patrizia
Reynier, Pascal
Layet, Valerie
Layet, Antoine
Stevanin, Giovanni
Brissaud, Etienne
Bonneau, Dominique
Durr, Alexandra
Brice, Alexis
BRAIN, 2011, 134
[4] Reply: Heterozygous OPA1 mutations in Behr syndrome
Yu-Wai-Man, Patrick
Chinnery, Patrick F.
BRAIN, 2011, 134
[5] 'Behr syndrome' with OPA1 compound heterozygote mutations
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BRAIN, 2015, 138
[6] Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations
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BRAIN, 2015, 138
[7] SENSORY NEUROPATHY IN CHILDREN PRESENTING WITH BEHR SYNDROME DUE TO OPA1 MUTATIONS
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[8] Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations
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[9] Early-onset parkinsonism due to compound heterozygous POLG mutations
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[10] Leigh-like syndrome due to OPA1 mutations
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EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2017, 21 (06) : 921 - 922

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