A Twinkle in Her Eye? (Presentation Video)

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Identifier walsh_2008_s4_c2_video
Title A Twinkle in Her Eye? (Presentation Video)
Creator Hall, Jennifer K.
Subject Ophthalmoplegia; DNA Helicases; Mitochondrial Myopathies; Genetic Polymorphism; Ocular Motility Disorders; Exotropia; Ataxia; Mitochondrial Diseases; Point Mutation
Presenting Symptom Bilateral adduction deficits with weakness bilaterally in the lower face; Decreased hearing AS; Mild ataxia
History A 46-year old female developed a nasal voice and upper extremity weakness at age 16. EMG and muscle biopsy showed evidence of myopathy. Her condition showed little progression until age 30 when she developed left sided hearing loss.
Clinical Exotropia; Ataxia
Neuroimaging N/A
Pathology Mutations of mitochondrial DNA
Disease/Diagnosis Progressive external ophthalmoplegia syndrome with novel S1095R mutation in POLG1 strongly suspected to be pathogenic
Treatment N/A
References 1. Horvath R, Hudson G, Gianfrancesco F et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006;129:1674-84. 2. Naimi M, Bannwarth S, Procaccio V, et al. Molecular analysis of ANT1, TWINKLE, and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. European Journal of Human Genetics 2006; 14 917-22.
Relation is Part of Session 4, Case 2, Walsh Session, NANOS 2008
Contributor Primary Hall, Jennifer K.
Contributor Secondary Bonnemann, Carsten; Liu, Grant T.; Volpe, Nicholas J.; Ko, Melissa; Palmer, Yvette; Galetta, Steven L.
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 2008-03-09
Type Image/MovingImage
Format video/mp4
Source 40th Annual Frank Walsh Society Meeting
Rights Management Copyright 2002. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Language eng
ARK ark:/87278/s6862k8f
Setname ehsl_novel_fbw
Date Created 2010-03-15
Date Modified 2017-02-15
ID 178761
Reference URL https://collections.lib.utah.edu/ark:/87278/s6862k8f
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