Multi-System Neurological Disease Is Common In Patients with OPA1 Mutations

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Identifier 20100309_nanos_sciplatform_04_ppt.pdf
Title Multi-System Neurological Disease Is Common In Patients with OPA1 Mutations
Creator Yu-Wai-Man, Patrick; Griffiths, Philip G.; Gorman, Grainne S.; Lourenco, Charles M.; Wright, Alan F.; Auer-Grumbach, Michaela; Lenaers, Guy; Turnbull, Douglass M.; Votruba, Marcela; Zeviani, Massimo; Carelli, Valerio; Bindoff, Lawrence; Horvath, Rita; Amati-Bonneau, Patrizia; Chinnery, Patrick F.
Subject Dominant optic atrophy; Inherited optic neuropathy; Mitochondrial genetic disorders; Hereditary spastic paraplegia; Multiple sclerosis
Description Autosomal dominant optic atrophy (DOA) classically presents in early childhood with progressive visual failure, and about 60% of families harbor pathogenic mutations in the OPA1 gene (3q28-q29).
Date 2010-03-09
Language eng
Format application/pdf
Format Creation application/pdf
Type Text
Source 2010 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS 2010: Scientific Platform Presentations
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/s6gx7j0f
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Contributor Secondary Agnes Wong, MD, PhD, FRCS(C); Prem Subramanian, MD, PhD (Cases 1-7); Alfredo Sadun, MD, PhD; Michael Lee, MD (Cases 8-15)
Setname ehsl_novel_nam
ID 181310
Reference URL https://collections.lib.utah.edu/ark:/87278/s6gx7j0f