title: Duplications of mitochondrial DNA in Kearns-Sayre syndrome.
abstract: mtDNA duplications were detectable in 10 of 10 patients with mtDNA deletions and Kearns-Sayre syndrome (KSS) and in none of 8 patients with chronic progressive external ophthalmoplegia (CPEO). Thus, duplications of mtDNA seem to be a distinctive feature of KSS, including patients where Pearson's syndrome is the first manifestation. Diabetes mellitus was identified in 4 of 7 patients with high or moderate levels of mtDNA duplications. The balance of mtDNA rearrangements may be central to the pathogenesis of this unique group of disorders.
authors.affiliation: Department of Paediatrics, University of Oxford, John Radcliffe Hospital, Headington, UK.
authors.forename: J
authors.initials: J
authors.lastname: Poulton
authors.forename: K J
authors.initials: KJ
authors.lastname: Morten
authors.forename: D
authors.initials: D
authors.lastname: Marchington
authors.forename: K
authors.initials: K
authors.lastname: Weber
authors.forename: G K
authors.initials: GK
authors.lastname: Brown
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.forename: L
authors.initials: L
authors.lastname: Bindoff
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics; D015321:Gene Rearrangement; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D009886:Ophthalmoplegia / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial