A New Homoplasmic mtDNA Mutation Described in Mother and Son with Clinical LHON

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Identifier 20200308_nanos_posters_047
Title A New Homoplasmic mtDNA Mutation Described in Mother and Son with Clinical LHON
Creator Rasmus Eurホn; Frank Trハisk; Helene Bruhn; Rolf Wibom; Martin Engvall; Anna Wedell; Nicole Lesko; Anna Wredenberg; Valerio Carelli; Aki Kawasaki
Affiliation (RE) (FT) St Eriks Eye hospital, Stockholm, Sweden; (HB) (RW) (ME) (AW) (NL) (AW) Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; (VC) Dipartimento di Scienze Biomediche e Neuromotorie, University of Bologna, Bologna, Italy; (AK) Department of Ophthalmology, Hルpital Ophtalmique Jules Gonin, University of Lausanne, Lausanne, Switzerland
Subject Optic neuropathy, Genetic disease
Description A 48 year old woman presented with acute painless sequential visual loss that progressed over two months. The patient had no previous ophthalmologic history. She was a chronic smoker with intermittent alcohol abuse and an amphetamine addiction 15 years prior.
Date 2020-03
Language eng
Format application/pdf
Type Text
Source 2020 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS Annual Meeting 2020: Poster Session I: Clinical Highlights
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 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6n355nx
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Setname ehsl_novel_nam
ID 1539277
Reference URL https://collections.lib.utah.edu/ark:/87278/s6n355nx
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