OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA), a condition characterized by the preferential loss of retinal ganglion cells and progressive optic nerve degeneration. Approximately 20% of affected patients will also develop more severe neuromuscular complications, an importan...

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Hlavní autoři: Yu-Wai-Man, Patrick, Sitarz, Kamil S., Samuels, David C., Griffiths, Philip G., Reeve, Amy K., Bindoff, Laurence A., Horvath, Rita, Chinnery, Patrick F.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2901142/
https://ncbi.nlm.nih.gov/pubmed/20484224
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq209
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