The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

BACKGROUND: Mutations in the Twinkle (PEO1) gene are a recognized cause of autosomal dominant progressive external ophthalmoplegia (adPEO), resulting in the accumulation of multiple mitochondrial DNA (mtDNA) deletions and cytochrome c oxidase (COX)-deficient fibers in skeletal muscle secondary to a...

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Main Authors: Fratter, C., Gorman, G.S., Stewart, J.D., Buddles, M., Smith, C., Evans, J., Seller, A., Poulton, J., Roberts, M., Hanna, M.G., Rahman, S., Omer, S.E., Klopstock, T., Schoser, B., Kornblum, C., Czermin, B., Lecky, B., Blakely, E.L., Craig, K., Chinnery, P.F., Turnbull, D.M., Horvath, R., Taylor, R.W.
Format: Artigo
Language:Inglês
Published: American Academy of Neurology 2010
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2875130/
https://ncbi.nlm.nih.gov/pubmed/20479361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181df099f
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