| Title |
Autosomal Recessive Leber Hereditary Optic Neuropathy in a Patient With a Novel NDUFAF2 Compound Heterozygous Mutation |
| Creator |
I-Hsien Chen; Hsin-Ho Chang; Hsun-I Chiu; Hui-Chen Cheng; An-Guor Wang |
| Affiliation |
Department of Ophthalmology (I-HC), Kaohsiung Medical University Hospital, Kaohsiung, Taiwan; Department of Ophthalmology (I-HC), Kaohsiung Municipal Siaogang Hospital, Kaohsiung, Taiwan; Department of Ophthalmology (I-HC), School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Ophthalmology (H-HC, H-IC, H-CC, A-GW), Taipei Veterans Ge Chang Neral Hospital, Taipei, Taiwan; Department of Ophthalmology (H-CC, A-GW), School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Program in Molecular Medicine (H-CC), College of Life Sciences, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Life Sciences and Institute of Genome Sciences (H-CC), College of Life Sciences, National Yang Ming Chiao Tung University, Taipei, Taiwan; Brain Research Center (H-CC), National Yang Ming Chiao Tung University, Taipei, Taiwan |
| Date |
2024-12 |
| Date Digital |
2024-12 |
| References |
Gerber S, Ding MG, Gerard X, et al. Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy. J Med Genet. 2017;54:346-356. Magrinelli F, Cali E, Braga VL, et al. Biallelic loss-of-function NDUFA12 variants cause a wide phenotypic spectrum from Leigh/Leigh-like syndrome to isolated optic atrophy. Mov Disord Clin Pract. 2022;9:218-228. Stenton SL, Tesarova M, Sheremet NL, et al. DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain. 2022;145:1624-1631. Gerber S, Orssaud C, Kaplan J, Johansson C, Rozet JM. MCAT mutations cause nuclear LHON-like optic neuropathy. Genes (Basel). 2021;12:521. Ogilvie I, Kennaway NG, Shoubridge EA. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. J Clin Invest. 2005;115:2784-2792. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Publication Type |
Journal Article |
| Source |
Journal of Neuro-Ophthalmology, December 2024, Volume; 44, 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/s6jfwsm4 |
| Setname |
ehsl_novel_jno |
| ID |
2932926 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6jfwsm4 |
