Identifier |
20040331_nanos_posters_060 |
Title |
The Genetic Testing Paradigm for Leber's Hereditary Optic Neuropathy: Discovery of a New Candidate LHON Mitochondrial DNA Mutation |
Creator |
Michael D. Brown, PhD; Valerie Biousse, MD; Seyed Hosseini, PhD; Douglas C. Wallace, PhD; Nancy J. Newman, MD |
Affiliation |
Macon, GA; Atlanta, GA |
Subject |
LHON; Mitochondrial DNA; Mutation |
Description |
Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by mitochondrial DNA (mtDNA) mutations. Roughly 30 different mtDNA mutations have been associated with LHON, with variants at nucleotide positions (np) 3460, 11778, and 14484 ('primary' mutations) comprising about 80-90% of cases. |
Date |
2004-03-31 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2004 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS 2004: Poster Presentations |
Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
Publisher |
North American Neuro-Ophthalmology Society |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
Rights Management |
Copyright 2004. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6t470hq |
Setname |
ehsl_novel_nam |
ID |
181354 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6t470hq |