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

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. (Author), Gorman, G. S. (Author), Stewart, J. D. (Author), Buddles, M. (Author), Smith, C. (Author), Evans, J. (Author), Seller, A. (Author), Poulton, J. (Author), Roberts, M. (Author), Hanna, M. G. (Author), Rahman, S. (Author), Omer, S. E. (Author), Klopstock, T. (Author), Schoser, B. (Author), Kornblum, C. (Author), Czermin, B. (Author), Lecky, B. (Author), Blakely, E. L. (Author), Craig, K. (Author), Chinnery, P. F. (Author), Turnbull, D. M. (Author), Horvath, R. (Author), Taylor, R. W. (Author)
Format: Article
Language:English
Published: 2010.
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