Identifier |
20040330_nanos_sciplatform1_01 |
Title |
Dominant Optic Atrophy, Sensorineural Hearing Loss, Ptosis, and Ophthalmoplegia: A Syndrome Caused by a Mutation in OPA1 |
Creator |
Marielle Payne; Zhenglin Yang, MD; Christopher J. Weight, BS; Kimberly J. Hart, MS; Yu Zhao, MS; Bradley J. Katz, MD, PhD; Robert L. Treft, MD; Judith E. A. Warner, MD; Kang Zhang, MD, PhD |
Affiliation |
Salt Lake City, UT |
Subject |
Optic Atrophy; Ophthalmoplegia; OPA1 |
Description |
Treft et al. (1984) previously described an autosomal dominant disorder in 23 subjects of a 96-member family in which each affected individual exhibited progressive optic atrophy, sensorineural hearing loss, ptosis and ophthalmoplegia. |
Date |
2004-03-30 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2004 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS 2004: Scientific Platform Presentations (Session I) |
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/s66x2hjt |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
181436 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s66x2hjt |