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...

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Detalles Bibliográficos
Autores principales: Pandya, Bhadra U., Vosoughi, Amir R., Jhaveri, Aaditeya, Micieli, Jonathan A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Case Report
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020936/
https://www.ncbi.nlm.nih.gov/pubmed/36938504
http://dx.doi.org/10.1159/000529423

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