The Genetic Testing Paradigm for Leber's Hereditary Optic Neuropathy: Discovery of a New Candidate LHON Mitochondrial DNA Mutation

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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
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