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dc.contributor.authorVan der Westhuizen, Francois H.en_US
dc.contributor.authorLevanets, Oksanaen_US
dc.contributor.authorMeissner-Roloff, Madeleinen_US
dc.contributor.authorLouw, Roanen_US
dc.contributor.authorSmet, Joélen_US
dc.date.accessioned2012-02-29T09:45:50Z
dc.date.available2012-02-29T09:45:50Z
dc.date.issued2010en_US
dc.identifier.citationVan der Westhuizen, F.H. et al. 2010. Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia. Journal of inherited metabolic disease, 33(Suppl 3):55-62. [https://doi.org/10.1007/s10545-009-9020-y]en_US
dc.identifier.issn0141-8955en_US
dc.identifier.issn1573-2665 (Online)en_US
dc.identifier.urihttp://hdl.handle.net/10394/5774
dc.identifier.urihttps://doi.org/10.1007/s10545-009-9020-y
dc.identifier.urihttps://link.springer.com/article/10.1007/s10545-009-9020-y
dc.description.abstractA young, adult, African male patient presented with progressive proximal muscle weakness, external ophthalmoplegia and ptosis, as well as cardiac conduction abnormalities resembling Kearns–Sayre syndrome (KSS). Magnetic resonance imaging (MRI) of the brain revealed normal basal ganglia but bilateral well-circumscribed lesions in the cerebellar peduncles. Enzyme deficiencies in oxidative phosphorylation (OXPHOS) complexes I, IV and V was measured in muscle tissue. Blue native polyacrylamide gel electrophoresis (BN-PAGE) confirmed decreased protein content and activity of these complexes and revealed the presence of two catalytically active complex V sub-complexes. Upon investigation by molecular genetics, the mitochondrial DNA (mtDNA) copy number was found to be elevated and a novel deletion of 3431 bp was found in 80% of muscle mtDNA between positions 7115 and 10546, flanked by a 5 bp direct repeat sequence. In addition, it could also be concluded that the absence of mtDNA-encoded ATPase6 and ATPase8 genes in this patient clearly resulted in aberrant synthesis of ATP synthase
dc.publisherSpringeren_US
dc.titleAberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegiaen_US
dc.contributor.researchID10213503 - Van der Westhuizen, Francois Hendrikus
dc.contributor.researchID10986707 - Louw, Roan
dc.contributor.researchID13168185 - Levanets, Oksana


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