Ontology highlight
ABSTRACT:
SUBMITTER: Fratter C
PROVIDER: S-EPMC2875130 | biostudies-literature | 2010 May
REPOSITORIES: biostudies-literature
Fratter C C Gorman G S GS Stewart J D JD Buddles M M Smith C C Evans J J Seller A A Poulton J J Roberts M M Hanna M G MG Rahman S S Omer S E SE Klopstock T T Schoser B B Kornblum C C Czermin B B Lecky B B Blakely E L EL Craig K K Chinnery P F PF Turnbull D M DM Horvath R R Taylor R W RW
Neurology 20100501 20
<h4>Background</h4>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 apparent evidence of the clinical heterogeneity documented in other mtDNA mai ...[more]