Dominant Optic Atrophy, Sensorineural Hearing Loss, Ptosis, and Ophthalmoplegia: A Syndrome Caused by a Mutation in OPA1

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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: 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 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
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