Duplications of mitochondrial DNA in Kearns-Sayre syndrome
- 1 January 1995
- journal article
- research article
- Published by Wiley in Muscle & Nerve
- Vol. 18 (S14), S154-S158
- https://doi.org/10.1002/mus.880181430
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. © 1995 John Wiley & Sons, Inc.Keywords
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