Cargando…
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: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2023
|
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 |