Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy

We here report on the existence of Leber’s hereditary optic neuropathy (LHON) associated with peculiar combinations of individually non-pathogenic missense mitochondrial DNA (mtDNA) variants, affecting the MT-ND4, MT-ND4L and MT-ND6 subunit genes of Complex I. The pathogenic potential of these mtDNA...

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Detalles Bibliográficos
Autores principales: Caporali, Leonardo, Iommarini, Luisa, La Morgia, Chiara, Olivieri, Anna, Achilli, Alessandro, Maresca, Alessandra, Valentino, Maria Lucia, Capristo, Mariantonietta, Tagliavini, Francesca, Del Dotto, Valentina, Zanna, Claudia, Liguori, Rocco, Barboni, Piero, Carbonelli, Michele, Cocetta, Veronica, Montopoli, Monica, Martinuzzi, Andrea, Cenacchi, Giovanna, De Michele, Giuseppe, Testa, Francesco, Nesti, Anna, Simonelli, Francesca, Porcelli, Anna Maria, Torroni, Antonio, Carelli, Valerio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828459/
https://www.ncbi.nlm.nih.gov/pubmed/29444077
http://dx.doi.org/10.1371/journal.pgen.1007210

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828459/
https://www.ncbi.nlm.nih.gov/pubmed/29444077
http://dx.doi.org/10.1371/journal.pgen.1007210

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