Article
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Neurology - 18 May 2010
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
Abstract excerpt
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 disorder of mtDNA maintenance. Patients typically present with isolated extraocular muscle involvement, with little...
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