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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

A MERRF/ PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation.

We describe a two-generation family with combined clinical features of myoclonic epilepsy, progressive external ophthalmoplegia ( PEO), proximal myopathy, pigmentary retinopathy, progressive deafness, basal ganglia calcification, and ragged-red fibers in a muscle biopsy specimen. One family member died unexpectedly at age 22 years. The molecular tests revealed an A-to-G transition at nucleotide position 3243 of the mitochondrial tRNA(Leu(UUR)) gene. No one in this family had stroke-like episodes. Although the propositus (a 28-year-old woman) had a significant number of white hairs, the percentage of mutant mtDNA in white-hair roots was not different from that in the colored-hair roots. Our findings suggest that the 3243 mutation can be associated with mixed clinical features of myoclonic epilepsy with ragged-red fibers (MERRF) and PEO and that a preferential increase in the levels of the mutant mtDNA is not related to graying of hair, and hence to the hypothesized production of premature aging of cells.[1]


  1. A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation. Verma, A., Moraes, C.T., Shebert, R.T., Bradley, W.G. Neurology (1996) [Pubmed]
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