| A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles. | |
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MedLine Citation:
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PMID: 20388556 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Kearns-Sayre syndrome is a mitochondrial disorder characterized by the emergence before the age of 20 years of progressive external ophthalmoplegia, pigmentary retinopathy, with other heterogeneous clinical manifestations. Generally, mitochondrial DNA deletions were associated with KSS but the size and position of these deletions differ among patients. This study reported a Tunisian patient with typical features of KSS. Long-range PCR amplification of the mtDNA in different tissues from this patient showed multiple mitochondrial deletions: two novel 9.768 and 7.253 kb deletions spanning respectively nucleotides 6124-15,893 and 8572-15,826 associated with the common 4.977 kb deletion. |
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Authors:
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Emna Mkaouar-Rebai; Imen Chamkha; Thouraya Kammoun; Imen Chabchoub; Hajer Aloulou; Nourhene Fendri; Mongia Hachicha; Faiza Fakhfakh |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-04-11 |
Journal Detail:
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Title: Mitochondrion Volume: 10 ISSN: 1872-8278 ISO Abbreviation: Mitochondrion Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-08-09 Completed Date: 2010-11-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100968751 Medline TA: Mitochondrion Country: Netherlands |
Other Details:
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Languages: eng Pagination: 449-55 Citation Subset: IM |
Copyright Information:
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(c) 2010 Mitochondria Research Society. Published by Elsevier B.V. All rights reserved. |
Affiliation:
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Human Molecular Genetic Laboratory, Faculty of Medicine of Sfax, Tunisia. emna_mkaouar@mail2world.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Brain / radiography DNA, Mitochondrial / genetics* Female Hair Follicle / pathology* Humans Kearns-Sayre Syndrome / diagnosis, genetics*, pathology* Leukocytes / pathology* Magnetic Resonance Imaging Mouth Mucosa / pathology* Sequence Deletion* Tunisia |
| 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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