Background: Chronic progressive external ophthalmoplegia (CPEO) is a prominent clinical manifestation in mitochondrial disease, and can be caused by single or multiple deletions in mitochondrial DNA (mtDNA), as well as by mtDNA point mutations. Single deletions are usually sporadic, whilst multiple deletions arise due to mutations in nuclear genes. Here, we examine the distribution of the various mutations in a cohort of 290 patients with CPEO, and compare the clinical features exhibited by the various groups.
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© 2013 Published by Elsevier Inc.