3.1-kb deletion of mitochondrial DNA in a patient with Kearns-Sayre syndrome |
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Authors: | T. Klopstock F. Bischof K. Gerok G. Deuschl P. Seibel U. -P. Ketelsen H. Reichmann |
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Affiliation: | (1) Department of Neurology, University of Würzburg, D-97080 Würzburg, Germany;(2) Department of Neurology Klinikum Großhadern, University of München, Marchioninistrasse 15, D-81366 Munchen, Germany;(3) Department of Neurology, University of Freiburg, D-79104 Fleiburg, Germany;(4) Department of Pediatrics, University of Freiburg, D-79106 Freiburg, Germany |
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Abstract: | 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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Keywords: | Chronic progressive external ophthalmoplegia Kearns-Sayre syndrome Mitochondrial DNA deletion |
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