| Identifier |
19920224_nanos_researchpres_05 |
| Title |
Heteroplasmy in Leber's Hereditary Optic Neuropathy |
| Creator |
Kyle H. Smith, MD; Donald R. Johns; Neil R. Miller; Katrinka Heher |
| 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. |
| Date |
1992-02-24 |
| Language |
eng |
| Format |
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: 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 1992. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6xm1n61 |
| Setname |
ehsl_novel_nam |
| ID |
182963 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6xm1n61 |
