Article
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2015
Da Pozzo Paola, Rubegni Anna, Rufa Alessandra, Cardaioli Elena, Taglia Ilaria, Gallus Gian Nicola, Malandrini Alessandro, Federico Antonio
Abstract excerpt
Progressive external ophthalmoplegia (PEO) with multiple deletions of mitochondrial DNA (mtDNA) is associated with several mutations in nuclear genes. They include POLG, POLG2, ANT1, C10orf2/Twinkle, and OPA1. However, digenic inheritance in mitochondrial disorders has been documented in a few cases over the years. Here we describe an 80-year-old man with sporadic PEO associated with mtDNA deletions. Sequencing...
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