SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Inherited optic neuropathies include complex phenotypes, mostly driven by mitochondrial dysfunction. We report an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with mitochondrial DNA (mtDNA) depletion without accu...

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Détails bibliographiques
Publié dans:J Clin Invest
Auteurs principaux: Del Dotto, Valentina, Ullah, Farid, Di Meo, Ivano, Magini, Pamela, Gusic, Mirjana, Maresca, Alessandra, Caporali, Leonardo, Palombo, Flavia, Tagliavini, Francesca, Baugh, Evan Harris, Macao, Bertil, Szilagyi, Zsolt, Peron, Camille, Gustafson, Margaret A., Khan, Kamal, La Morgia, Chiara, Barboni, Piero, Carbonelli, Michele, Valentino, Maria Lucia, Liguori, Rocco, Shashi, Vandana, Sullivan, Jennifer, Nagaraj, Shashi, El-Dairi, Mays, Iannaccone, Alessandro, Cutcutache, Ioana, Bertini, Enrico, Carrozzo, Rosalba, Emma, Francesco, Diomedi-Camassei, Francesca, Zanna, Claudia, Armstrong, Martin, Page, Matthew, Stong, Nicholas, Boesch, Sylvia, Kopajtich, Robert, Wortmann, Saskia, Sperl, Wolfgang, Davis, Erica E., Copeland, William C., Seri, Marco, Falkenberg, Maria, Prokisch, Holger, Katsanis, Nicholas, Tiranti, Valeria, Pippucci, Tommaso, Carelli, Valerio
Format: Artigo
Langue:Inglês
Publié: American Society for Clinical Investigation 2019
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6934201/
https://ncbi.nlm.nih.gov/pubmed/31550240
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI128514
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