| Mitochondrial DNA depletion syndromes--many genes, common mechanisms. | |
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MedLine Citation:
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PMID: 20444604 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Mitochondrial DNA depletion syndrome has become an important cause of inherited metabolic disorders, especially in children, but also in adults. The manifestations vary from tissue-specific mtDNA depletion to wide-spread multisystemic disorders. Nine genes are known to underlie this group of disorders, and many disease genes are still unidentified. However, the disease mechanisms seem to be intimately associated with mtDNA replication and nucleotide pool regulation. We review here the current knowledge on the clinical and molecular genetic features of mitochondrial DNA depletion syndrome. |
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Authors:
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Anu Suomalainen; Pirjo Isohanni |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2010-05-04 |
Journal Detail:
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Title: Neuromuscular disorders : NMD Volume: 20 ISSN: 1873-2364 ISO Abbreviation: Neuromuscul. Disord. Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-07-08 Completed Date: 2010-10-04 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9111470 Medline TA: Neuromuscul Disord Country: England |
Other Details:
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Languages: eng Pagination: 429-37 Citation Subset: IM |
Copyright Information:
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2010 Elsevier B.V. All rights reserved. |
Affiliation:
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Research Program of Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland. anu.wartiovaara@helsinki.fi |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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DNA, Mitochondrial
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genetics*,
metabolism Gene Deletion* Humans Mitochondrial Diseases / genetics* |
| 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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