| Identifier |
20180306_nanos_sciplatform2_02 |
| Title |
Combinations of Polymorphic Mitochondrial DNA Variants Cause Leber's Hereditary Optic Neuropathy |
| Creator |
Valerio Carelli, Leonardo Caporali, Luisa Iommarini, Chiara La Morgia, Anna Olivieri, Alessandro Achilli, Alessandra Maresca, Valerio Carelli, Leonardo Caporali, Luisa Iommarini, Chiara La Morgia, Anna Olivieri, Alessandro Achilli, Alessandra Maresca, Mariantonietta Capristo, Francesca Tagliavini, Valentina Del Dotto, Piero Barboni, Michele Carbonelli, Antonio Torroni |
| Subject |
Optic Neuropathy |
| Description |
Leber's hereditary optic neuropathy (LHON) is traditionally associated with primary mitochondrial DNA (mtDNA) mutations exerting the role of a necessary but not sufficient genetic factor for disease. A few families segregating LHON along the maternal line lack a primary mtDNA pathogenic mutation, posing the question if some mtDNA haplotypes with peculiar combinations of missense polymorphic variants may predispose to LHON. |
| Date |
2018-04 |
| Language |
eng |
| Format |
video/mp4 |
| Source |
2018 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2018: Scientific Platform Presentations Session 2 |
| 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 2017. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s65x6cnq |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Contributor Primary |
Valerio Carelli, MD, PhD |
| Setname |
ehsl_novel_nam |
| ID |
1321154 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s65x6cnq |
