Leber’s hereditary optic neuropathy: clinical and genetic analysis of Bulgarian patients

Leber’s hereditary optic neuropathy: clinical and genetic analysis of Bulgarian patients

Leber’s hereditary optic neuropathy (LHON) is a rare maternally inherited disease caused by mutations in mitochondrial DNA (mtDNA) genes encoding subunits of complex I in the mitochondrial respiratory chain. The most common mutations causing LHON are G11778A, G3460A and T14484C, but there are also s...

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Bibliographic Details
Main Authors: Sylvia Cherninkova, Boryana Zaharova, Kunka Kamenarova, Kalina Mihova, Slavena Atemin, Tihomir Todorov, Vasil Haykin, Alexander Oscar, Ivailo Tournev, Radka Kaneva, Albena Todorova
Format: Article
Language:English
Published: Taylor & Francis Group 2023-03-01
Series:Biotechnology & Biotechnological Equipment
Subjects:
Leber’s hereditary optic neuropathy
neuroophthalmologic examination
genetic examination
rare mutation
mtDNA
Online Access:https://www.tandfonline.com/doi/10.1080/13102818.2023.2255073
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