Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

BACKGROUND: Leber’s hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively in MT-ND4, MT-ND1 and MT-ND6 genes). Ho...

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Auteurs principaux: Achilli, Alessandro, Iommarini, Luisa, Olivieri, Anna, Pala, Maria, Hooshiar Kashani, Baharak, Reynier, Pascal, La Morgia, Chiara, Valentino, Maria Lucia, Liguori, Rocco, Pizza, Fabio, Barboni, Piero, Sadun, Federico, De Negri, Anna Maria, Zeviani, Massimo, Dollfus, Helene, Moulignier, Antoine, Ducos, Ghislaine, Orssaud, Christophe, Bonneau, Dominique, Procaccio, Vincent, Leo-Kottler, Beate, Fauser, Sascha, Wissinger, Bernd, Amati-Bonneau, Patrizia, Torroni, Antonio, Carelli, Valerio
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2012
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Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3411744/
https://ncbi.nlm.nih.gov/pubmed/22879922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0042242
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