| Mitochondrial DNA mutations in human diseases: a review. | |
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MedLine Citation:
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PMID: 1581387 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Human mitochondrial diseases have been associated recently with mitochondrial DNA mutations, duplications and deletions which impair the protein synthesis of the mitochondrial subunits of the respiratory chain complexes. A constant feature is the coincident presence of the mutated and wild type genomes which provide heteroplasmy. The clinical expression of these diseases depends on the relative expression of each kind of mitochondrial DNA in the various tissues, which in turn affects the production of ATP in these tissues. Research on nuclear gene products interfering with mtDNA or with its gene products is the next step towards understanding the etiology of these diseases. |
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Authors:
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P Lestienne |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Biochimie Volume: 74 ISSN: 0300-9084 ISO Abbreviation: Biochimie Publication Date: 1992 Feb |
Date Detail:
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Created Date: 1992-06-18 Completed Date: 1992-06-18 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 1264604 Medline TA: Biochimie Country: FRANCE |
Other Details:
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Languages: eng Pagination: 123-30 Citation Subset: IM |
Affiliation:
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U 298 INSERM, CHR Angers, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Deletion DNA, Mitochondrial / genetics* Genetic Diseases, Inborn / genetics* Humans Mutation* RNA, Transfer / genetics |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial; 9014-25-9/RNA, Transfer |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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