Dombi, E., Diot, A., Morten, K. et al. (16 more authors) (2016) The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy. Neurology, 86 (20). pp. 1921-1923. ISSN 0028-3878
Abstract
Maternally inherited mitochondrial DNA (mtDNA) mutations cause symptoms of Leber hereditary optic neuropathy (LHON) in -1 in 30,000 individuals. Most of the affected individuals lack respiratory chain defects1 and there is no proven prophylactic treatment.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2016 American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY) (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > The Medical School (Sheffield) The University of Sheffield > Faculty of Science (Sheffield) > School of Biosciences (Sheffield) > Department of Molecular Biology and Biotechnology (Sheffield) The University of Sheffield > Sheffield Teaching Hospitals |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 15 Jul 2016 13:57 |
Last Modified: | 15 Jul 2016 13:57 |
Published Version: | http://dx.doi.org/10.1212/WNL.0000000000002688 |
Status: | Published |
Publisher: | American Academy of Neurology |
Refereed: | Yes |
Identification Number: | 10.1212/WNL.0000000000002688 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:101634 |