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The first genetically authenticated case of Leber hereditary optic neuropathy in Sri Lanka: a case report and review of the literature

INTRODUCTION: Leber hereditary optic neuropathy is a genetic disease of mitochondrial inheritance characterized by bilateral irreversible vision loss, predominantly affecting males. We report the first genetically authenticated Sri Lankan case of Leber hereditary optic neuropathy, illustrating its c...

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Detalles Bibliográficos
Autores principales: Gunawardena, Kawmadi, Dissanayake, Vajira H. W., Chang, Thashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9898959/
https://www.ncbi.nlm.nih.gov/pubmed/36737829
http://dx.doi.org/10.1186/s13256-023-03763-x