| Identifier |
20200308_nanos_posters_048 |
| Title |
Nuclear Mitochondrial DNA Mutation Causing a Leber Hereditary Optic Neuropathy Phenotypic Expression |
| Creator |
Sasha A. Mansukhani, Dev Mehta, Deborah Renaud, Mark Whealy, John Chen, M.Tariq Bhatti |
| Subject |
Genetic disease |
| Description |
Leber hereditary optic neuropathy (LHON) is associated with mutations of the mitochondrial (mt) DNA. The most common point mutations are positions 11778, 3460, and 14484 of subunit ND4, ND1 and ND6, respectively resulting in mitochondrial complex 1 deficiency. We report the first known case of a LHON "plus" phenotypic expression associated with pathogenic mutations of a nuclear (n) DNA gene that encodes NDUFAF5, a mitochondrial complex I assembly factor. |
| Date |
2020-03 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2020 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2020: Poster Session I: Clinical Highlights |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
Copyright 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6hb4dwr |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Contributor Primary |
Sasha A. Mansukhani |
| Contributor Secondary |
Dev Mehta, Deborah Renaud, Mark Whealy, John Chen, M.Tariq Bhatti |
| Setname |
ehsl_novel_nam |
| ID |
1539278 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6hb4dwr |
