| Duplications of mitochondrial DNA in Kearns-Sayre syndrome. | |
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MedLine Citation:
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PMID: 7603518 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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J Poulton; K J Morten; D Marchington; K Weber; G K Brown; A Rötig; L Bindoff |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Muscle & nerve. Supplement Volume: 3 ISSN: - ISO Abbreviation: Muscle Nerve Suppl Publication Date: 1995 |
Date Detail:
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Created Date: 1995-08-08 Completed Date: 1995-08-08 Revised Date: 2013-04-25 |
Medline Journal Info:
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Nlm Unique ID: 9517433 Medline TA: Muscle Nerve Suppl Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: S154-8 Citation Subset: IM |
Affiliation:
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Department of Paediatrics, University of Oxford, John Radcliffe Hospital, Headington, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Chromosome Deletion* DNA, Mitochondrial / genetics* Diabetes Mellitus / genetics Gene Rearrangement Humans Kearns-Sayre Syndrome / genetics* Ophthalmoplegia / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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P01 HD08315/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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