Compound heterozygosity for severe and hypomorphic <i>NDUFS2</i> mutations cause non-syndromic LHON-like optic neuropathy.-论文-万方医学网

作者： Sylvie,Gerber ^[1] ; Martina G,Ding ^[2] ; Xavier,Gérard ^[1] ; Klaus,Zwicker ^[3] ; Xavier,Zanlonghi ^[4] ; Marlène,Rio ^[5] ; Valérie,Serre ^[6] ; Sylvain,Hanein ^[7] ; Arnold,Munnich ^[1] ; Agnès,Rotig ^[5] ; Lucas,Bianchi ^[7] ; Patrizia,Amati-Bonneau ^[7] ; Orly,Elpeleg ^[8] ; Josseline,Kaplan ^[9] ; Ulrich,Brandt ^[1] ; Jean-Michel,Rozet ^[10]

作者单位： Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris Descartes University, Paris, France. ^[1] Molecular Bioenergetics Group, Goethe-University Medical School, Frankfurt am Main, Germany. ^[2] Institute of Biochemistry I, Goethe-University Medical School, Frankfurt am Main, Germany. ^[3] Clinique Jules Verne, Nantes, France. ^[4] Department of Genetics, Necker Hospital, Paris, France. ^[5] UMR7592 CNRS, Jacques Monod Institute, Paris Diderot University, Paris, France. ^[6] Laboratory of Genetics in Mitochondrial Diseases, INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris Descartes University, Paris, France. ^[7] Department of Biochemistry and Genetics, UMR CNRS 6214-INSERM U1083, CHU Angers, Angers, France. ^[8] Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. ^[9] Radboud Center for Mitochondrial Medicine (RCMM), Radboud University Medical Center, Nijmegen, The Netherlands. ^[10] Cluster of Excellence Frankfurt Macromolecular Complexes, Goethe-University, Frankfurt am Main, Germany. ^[11]

主题词成年人(Adult);氨基酸序列(Amino Acid Sequence);动物(Animals);碱基序列(Base Sequence);病例对照研究(Case-Control Studies);牛(Cattle);保守序列(Conserved Sequence);电子传递复合物Ⅰ(Electron Transport Complex I);女(雌)性(Female);成纤维细胞(Fibroblasts);单倍型(Haplotypes);杂合子(Heterozygote);人类(Humans);男(雄)性(Male);线粒体(Mitochondria);突变蛋白质类(Mutant Proteins);突变(Mutation);NADH脱氢酶(NADH Dehydrogenase);检眼镜检查(Ophthalmoscopy);视神经萎缩, 遗传性, Leber(Optic Atrophy, Hereditary, Leber);系谱(Pedigree);表型(Phenotype);体层摄影术, 光学相干(Tomography, Optical Coherence);亚罗酵母属(Yarrowia)

DOI 10.1136/jmedgenet-2016-104212

PMID 28031252

发布时间 2019-12-10

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Compound heterozygosity for severe and hypomorphic <i>NDUFS2</i> mutations cause non-syndromic LHON-like optic neuropathy.

Journal of medical genetics

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Journal of medical genetics

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Compound heterozygosity for severe and hypomorphic <i>NDUFS2</i> mutations cause non-syndromic LHON-like optic neuropathy.

Journal of medical genetics

相似文献

Journal of medical genetics

相关期刊

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