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- Title
Mitochondrial DNA 13513G>A mutation presenting with Leber's hereditary optic neuropathy.
- Authors
Chen, Benson S.; Biousse, Valérie; Newman, Nancy J.
- Abstract
We report a young man with the heteroplasmic m.13513G>A mutation in the ND5 gene manifesting with Leber's hereditary optic neuropathy (LHON)-type vision loss. However, contrary to most pathogenic mtDNA mutations that only cause disease when present at high mutant loads in tissue, the m.13513G>A mutation causes a complex I defect when present at unusually low mutant loads. Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-white syndrome and cardiomyopathy.
- Subjects
MELAS syndrome; MITOCHONDRIAL DNA; VISUAL fields; OPTIC disc; VISUAL acuity
- Publication
Clinical & Experimental Ophthalmology, 2019, Vol 47, Issue 9, p1202
- ISSN
1442-6404
- Publication type
Article
- DOI
10.1111/ceo.13603