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 |