ISSN:
1432-0533
Keywords:
Key words Chronic progressive external
;
ophthalmoplegia
;
Kearns-Sayre syndrome
;
Mitochondrial DNA deletion
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00294310
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