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Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.

We have investigated pathogenic effects of the tRNA(Lys) A8344G mutation associated with the syndrome myoclonus epilepsy with ragged-red fibres (MERRF) by using fibroblasts and fibroblast-derived cytoplasmic hybrid cells harbouring different percentages of mutated mitochondrial DNA (mtDNA). The acti...

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Bibliografische gegevens
Hoofdauteurs: Antonická, H, Floryk, D, Klement, P, Stratilová, L, Hermanská, J, Houstková, H, Kalous, M, Drahota, Z, Zeman, J, Houstek, J
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1999
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1220494/
https://ncbi.nlm.nih.gov/pubmed/10477264
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