Penetrance and Expressivity of Leber Hereditary Optic Neuropathy and Autosomal Dominant Optic Atrophy

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Identifier 20030212_nanos_sciplatform4_06
Title Penetrance and Expressivity of Leber Hereditary Optic Neuropathy and Autosomal Dominant Optic Atrophy
Creator Mackey, David A; Craig, JE; Marchbank, NJ; Toomes, C; Inglehearn, CF; Howell N
Subject Mitochondria; OPA1; Leber
Description LHON and ADOA are familial optic neuropathies due to mutations in the ND subunits of the mtDNA and OPA1, respectively. Not all people with these mutations develop visual loss and optic atrophy. LHON is characterized by acute visual loss, while ADOA is slowly progressive.
Date 2003-02-12
Language eng
Format application/pdf
Format Creation application/pdf
Type Text
Source 2003 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS 2003: Scientific Platforms Presentations II
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 2010. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6xh2xm2
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Contributor Primary Pomeranz, Howard D
Contributor Secondary Gordon, Lynn K
Setname ehsl_novel_nam
ID 181624
Reference URL https://collections.lib.utah.edu/ark:/87278/s6xh2xm2
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