Document Detail

Duplications of mitochondrial DNA in Kearns-Sayre syndrome.
MedLine Citation:
PMID:  7603518     Owner:  NLM     Status:  MEDLINE    
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.
J Poulton; K J Morten; D Marchington; K Weber; G K Brown; A Rötig; L Bindoff
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Muscle & nerve. Supplement     Volume:  3     ISSN:  -     ISO Abbreviation:  Muscle Nerve Suppl     Publication Date:  1995  
Date Detail:
Created Date:  1995-08-08     Completed Date:  1995-08-08     Revised Date:  2013-04-25    
Medline Journal Info:
Nlm Unique ID:  9517433     Medline TA:  Muscle Nerve Suppl     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  S154-8     Citation Subset:  IM    
Department of Paediatrics, University of Oxford, John Radcliffe Hospital, Headington, UK.
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MeSH Terms
Chromosome Deletion*
DNA, Mitochondrial / genetics*
Diabetes Mellitus / genetics
Gene Rearrangement
Kearns-Sayre Syndrome / genetics*
Ophthalmoplegia / genetics*
Grant Support
Reg. No./Substance:
0/DNA, Mitochondrial

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