| Title |
Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy |
| Creator |
Maria Rizk, MD; Ibrahim Dunya, MD; Georges Azar, MD; Roland Seif, MD; Andre Megarbane, MD; Ama Sadaka, MD |
| Affiliation |
Ophthalmology Department (MR, ID, RS, AS), Lebanese American University Medical Center-Rizk Hospital, Beirut, Lebanon; Faculty of Medicine (GA), Eye & Ear University Hospital, Holy Spirit University of Kaslik, Beirut, Lebanon; and Institut Jerome Lejeune (AM), CRB BioJel, Paris, France |
| Abstract |
Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by bilateral, painless, subacute visual failure that develops during young adult life. |
| Subject |
Adolescent; DNA Mutational Analysis; DNA, Mitochondrial / genetics; Electron Transport Complex IV / genetics; Humans; Mutation; NADH Dehydrogenase / genetics; NADH Dehydrogenase / metabolism; Optic Atrophy, Hereditary, Leber / genetics; Optic Atrophy, Hereditary, Leber / metabolism; Young Adult |
| Date |
2020-12 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Publication Type |
Journal Article |
| Source |
Journal of Neuro-Ophthalmology, December 2020, Volume 40, Issue 4 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| ARK |
ark:/87278/s6j1vqj8 |
| Setname |
ehsl_novel_jno |
| ID |
1741121 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6j1vqj8 |
