| Identifier |
20170402_nanos_posters_063 |
| Title |
Homozygous A467T mutation in a patient with gastrointestinal symptoms, Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoplegia |
| Creator |
Cesar Alfaro Cruz; Imran Jivraj; Madhura Tamhankar; Jacob Kaufman |
| Affiliation |
(CAC) (IJ) (MT) The Scheie Eye Institute, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania; (JK) The Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania |
| Subject |
Genetic Disease; Ocular Motility |
| Description |
We report a patient with a homozygous A467T POLG mutation presenting with sensory ataxic neuropathy, dysarthria, and ophthalmoplegia (SANDO) and gastrointestinal symptoms. |
| Date |
2017 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2017 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2017: Poster Presentations |
| 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 2017. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6v73cpb |
| Setname |
ehsl_novel_nam |
| ID |
1272721 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6v73cpb |
