| Identifier |
20030212_nanos_sciplatform4_06 |
| Title |
Penetrance and Expressivity of Leber Hereditary Optic Neuropathy and Autosomal Dominant Optic Atrophy |
| Creator |
David A. Mackey; J. E. Craig; N. J. Marchbank; C. Toomes; C. F. Inglehearn; N. Howell |
| Affiliation |
(DAM) (JEC) (NJM) (CT) (CFI) (NH) East Melbourne, Victoria, Australia |
| Subject |
Mitochondria; OPA1; Leber |
| Description |
LHON and ADOA are familial optic neuropathies due to mutations in the ND subunits of the mtDNA and OPA1, respectively. Not all people with these mutations develop visual loss and optic atrophy. LHON is characterized by acute visual loss, while ADOA is slowly progressive. |
| Date |
2003-02-12 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2003 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2003: Scientific Platforms Presentations II |
| 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 2010. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6xh2xm2 |
| Setname |
ehsl_novel_nam |
| ID |
181624 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6xh2xm2 |
