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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:J Clin Invest
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: American Society for Clinical Investigation 2019
الموضوعات:
Research Article
الوصول للمادة أونلاين: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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