| Identifier |
20190317_nanos_posters_020 |
| Title |
Mitochondrial ND5 gene heteroplasmic mutation (m.G13042A), in a patient with Leigh-LHON overlap syndrome |
| Creator |
Inbal Man Peles; Shirel Weiss; Hanna Mandel; Nitza Goldenberg-Cohen |
| Affiliation |
(IMP) (NG) Ophthalmology, Bnai Zion Medical Center, Haifa; Faculty of Medicine, Technion, Haifa, Israel; (SW) The Krieger Eye Research Laboratory, FMRC, Petach Tikva, Israel; (HM) Naharia medical center, Naharia, Israel |
| Subject |
Genetic Disease; Optic Neuropathy; Ocular Motility |
| Description |
We describe the first case report of Leigh/LOHN overlap syndrome associated with mitochondrial 13042G>A mutation. |
| Date |
2019-03 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2019 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NAM 2019: Poster Session I: Clinical Highlights in Neuro-Ophthalmology |
| 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 2019. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6g77z5r |
| Setname |
ehsl_novel_nam |
| ID |
1432207 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6g77z5r |
