| MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions. | |
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MedLine Citation:
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PMID: 20655066 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The syndrome of mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) is characterized clinically by recurrent focal neurological deficits, epilepsy, and short stature. The phenotypic spectrum is extremely diverse, with multisystemic organ involvement leading to isolated diabetes, deafness, renal tubulopathy, hypertrophic cardiomyopathy, and retinitis pigmentosa. In 80% of cases, the syndrome is associated with an AG transmission mutation (A3243G) in the tRNALeu gene of the mitochondrial DNA (mtDNA). We describe a woman with a unique combination of the MELAS A3243G mutation and multiple mtDNA deletions with normal POLG sequence. The patient presented with diabetes mellitus, sensorineural deafness, short stature, and mental disorientation. All her three children died in early adolescence. |
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Authors:
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Sharon Aharoni; Teres A Traves; Eldad Melamed; Sarit Cohen; Esther Leshinsky Silver |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-07-22 |
Journal Detail:
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Title: Journal of the neurological sciences Volume: 296 ISSN: 1878-5883 ISO Abbreviation: J. Neurol. Sci. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-04 Completed Date: 2010-11-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375403 Medline TA: J Neurol Sci Country: Netherlands |
Other Details:
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Languages: eng Pagination: 101-3 Citation Subset: IM |
Copyright Information:
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2010 Elsevier B.V. All rights reserved. |
Affiliation:
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Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Blotting, Southern Brain / pathology DNA / genetics* DNA, Mitochondrial / genetics* DNA-Directed DNA Polymerase / genetics Female Gene Deletion Humans MELAS Syndrome / genetics*, pathology Magnetic Resonance Imaging Middle Aged Mutation / genetics, physiology RNA, Transfer, Leu / genetics* Reverse Transcriptase Polymerase Chain Reaction |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial; 0/RNA, Transfer, Leu; 9007-49-2/DNA; EC 2.7.7.-/POLG protein, human; EC 2.7.7.7/DNA-Directed DNA Polymerase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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