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Scholar Results 1 - 5 of 5 citing Blok: Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause.... (0.12 sec) 

Mitochondrial disorders


M Zeviani, A Spinazzola - Current Neurology and Neuroscience Reports, 2003 - Springer
Introduction Mitochondrial disorders are clinical phenotypes associated with
abnormalities of the terminal component of mito- chondrial energy metabolism
(ie, oxidative phosphoryla- tion [OXPHOS]). OXPHOS is carried out in the ...
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A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific …


P Potluri, A Davila, E Ruiz-Pesini, D Mishmar, … - Molecular Genetics and Metabolism, 2009 - Elsevier
Mitochondrial diseases have been shown to result from mutations in mitochondrial
genes located in either the nuclear DNA (nDNA) or mitochondrial DNA (mtDNA).
Mitochondrial OXPHOS complex I has 45 subunits encoded by 38 nuclear and 7 ...
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[PDF] Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff- …


SB Wang, WC Weng, NC Lee, WL Hwu, PC … - Pediatrics and Neonatology, 2008 - ajws.elsevier.com
Mutation of mitochondrial DNA (mtDNA) G13513A, encoding the ND5 subunit of res-
piratory chain complex I, can cause mitochondrial encephalopathy with lactic
aci- dosis and stroke-like episodes (MELAS) and Leigh syndrome. ...
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线粒体基因 13513G> A 突变导致呼吸链酶复合物 I 缺陷 Leigh 综合征


魏晓琼, 孔庆鹏, 张尧, 杨艳玲, 常杏芝, 戚豫 … - 中国当代儿科杂志, 2009 - cqvip.com
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线粒体 tRNA^ ser (UCN)) 基因突变致线粒体脑肌病 1 例并文献复习


苏玲, 刘丽, 程静, 李秀珍, 戴津 - 中国循证儿科杂志, 2008 - cqvip.com
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