Identifier |
walsh_2008_s4_c2 |
Title |
A Twinkle in Her Eye? |
Creator |
Jennifer K. Hall; Carsten Bonnemann; Grant T. Liu; Nocholas J. Volpe; Melissa Ko; Yvette Palmer; Steven L. Galetta |
Affiliation |
Philadelphia, Pennsylvania |
Subject |
Ophthalmoplegia; DNA Helicases; Mitochondrial Myopathies; Genetic Polymorphism; Ocular Motility Disorders; Exotropia; Ataxia; Mitochondrial Diseases; Point Mutation |
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. |
Pathology |
Mutations of mitochondrial DNA |
Disease/Diagnosis |
Progressive external ophthalmoplegia syndrome with novel S1095R mutation in POLGl strongly suspected to be pathogenic |
Clinical |
Exotropia; Ataxia |
Presenting Symptom |
Bilateral adduction deficits with weakness bilaterally in the lower face; Decreased hearing AS |
Neuroimaging |
N/A |
Treatment |
N/A |
Date |
2008-03 |
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. |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
40th Annual Frank Walsh Society Meeting |
Relation is Part of |
NANOS Annual Meeting Frank B. Walsh Sessions; 2008 |
Collection |
Neuro-Ophthalmology Virtual Education Library: Walsh Session Annual Meeting Archives: https://novel.utah.edu/Walsh/ |
Publisher |
North American Neuro-Ophthalmology Society |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
Rights Management |
Copyright 2002. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6kd21nm |
Setname |
ehsl_novel_fbw |
ID |
178209 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6kd21nm |