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Acta Neuropathol. 1995;90(2):126-9.

3.1-kb deletion of mitochondrial DNA in a patient with Kearns-Sayre syndrome.

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Department of Neurology, University of W├╝rzburg, Germany.


Mitochondrial DNA (mtDNA) deletions have been found in the majority of patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. A large number of different mtDNA deletions have been identified. They generally spare the two origins of replication and are frequently flanked by direct or indirect repeats. We have found a 3.1-kb deletion of mtDNA in a patient with Kearns-Sayre syndrome that has some unusual features. First, it encompasses nucleotides 11259 to 14368, a localization that was not described before. Second, the deletion is not flanked by direct or indirect repeats, supporting the view that homologous recombination and slip-replication do not account for all mtDNA deletions.

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