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A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy Due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review

Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA (mtDNA) mutations. Three most common mutations, namely m.11778G>A, m.14484T>G and m.3460G>A, account for the majority of LHON cases. These mutations lea...

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Detalles Bibliográficos
Autores principales: Liutkeviciene, Rasa, Sidaraite, Agne, Kuliaviene, Lina, Glebauskiene, Brigita, Jurkute, Neringa, Aluzaite-Baranauskiene, Lina, Gelzinis, Arvydas, Zemaitiene, Reda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996816/
https://www.ncbi.nlm.nih.gov/pubmed/33652663
http://dx.doi.org/10.3390/medicina57030202