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A Rare ND5 Mutation Causing Leber’s Hereditary Optic Neuropathy
Mutations to the ND5 gene are uncommonly associated with Leber’s hereditary optic neuropathy (LHON). Herein, we describe a 57-year-old man with the m. 13528A>G, p. (Thr398Ala) mutation at the ND5 gene who presented with progressive bilateral vision loss over the course of 3 months. He had a signi...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
S. Karger AG
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020936/ https://www.ncbi.nlm.nih.gov/pubmed/36938504 http://dx.doi.org/10.1159/000529423 |