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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2018
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5828459/
https://ncbi.nlm.nih.gov/pubmed/29444077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007210
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