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Transmission of mitochondrial DNA diseases and ways to prevent them

Abstract:

Recent reports of strong selection of mitochondrial DNA (mtDNA) during transmission in animal models of mtDNA disease, and of nuclear transfer in both animal models and humans, have important scientific implications. These are directly applicable to the genetic management of mtDNA disease. The risk that a mitochondrial disorder will be transmitted is difficult to estimate due to heteroplasmy - the existence of normal and mutant mtDNA in the same individual, tissue, or cell. In addition, the m...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1371/journal.pgen.1001066

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Institution:
University of Oxford
Department:
Medical Sciences Division - Obstetrics & Gynaecology
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Institution:
Universidade de São Paulo, Brazil
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Institution:
Universidade de São Paulo, Brazil
More by this author
Institution:
University of Oxford
Department:
Medical Sciences Division - Obstetrics & Gynaecology
More by this author
Institution:
University of Oxford
Department:
Medical Sciences Division - Obstetrics & Gynaecology
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Action Medical Research More from this funder
Wellcome Trust More from this funder
Medical Research Council More from this funder
Oxford Partnership Comprehensive Biomedical Research Centre More from this funder
Department of Health More from this funder
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Publisher:
Public Library of Science Publisher's website
Journal:
PLoS Genetics Journal website
Volume:
6
Issue:
8
Pages:
Article: e1001066
Publication date:
2010-08-05
DOI:
EISSN:
1553-7404
ISSN:
1553-7390
URN:
uuid:57205f68-a844-4201-9aca-093beebe87c0
Local pid:
ora:5814

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