| Identifier |
20180306_nanos_sciplatform2_02-1 |
| 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; Mariantonietta Capristo; Francesca Tagliavini; Valentina Del Dotto; Piero Barboni; Michele Carbonelli; Antonio Torroni |
| Affiliation |
(VC) (CL) IRCCS Institute of Neurological Sciences of Bologna; DIBINEM, University of Bologna, Bologna, Italy; (LC) IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy; (LI) (AT) Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy; (AO) (AA) Department of Biology and Biotechnology, "L. Spallanzani", University of Pavia, Pavia, Italy; (AM) (MC) (FT) (VD) (MC) IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy; (PB) IRCCS San Raffaele Institute; Studio Oculistico D'Azeglio, Milan; Bologna, Italy |
| 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 |
application/pdf |
| Type |
Text |
| 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/s6255mwv |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
1321155 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6255mwv |
