| Identifier |
19920224_nanos_researchpres_05 |
| Title |
Heteroplasmy in Leber's Hereditary Optic Neuropathy |
| Creator |
Smith, Kyle H; Johns, Donald R; Miller, Neil R; Heher, Katrinka |
| Subject |
Heteroplasmy; Leber's Hereditary Optic Neuropathy; Transmission; Mutant Mitochondrial DNA |
| Description |
Leber's hereditary optic neuropathy (LHON) is characterized by maternal transmission of mutant mitochondrial DNA. About 50% of LHON patients have a point mutation at position 11778 in the ND_4 gene. Heteroplasmy is the presence of both normal and mutant mitochondrial DNA in tissue from a given patient, and has been demonstrated in some 11778+ LHON patients. This is the first study to evaluate systematically the clinical significance and transmission of heteroplasmy in LHON families. |
| Language |
eng |
| Format |
application/pdf |
| Format Creation |
application/pdf |
| Type |
Text |
| Source |
1992 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 1992: Research Presentations |
| 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 1992. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6xm1n61 |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Contributor Primary |
Kupersmith, Mark J |
| Setname |
ehsl_novel_nam |
| ID |
182963 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6xm1n61 |
