SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

V. Del Dotto, F. Ullah, I. Di Meo, P. Magini, M. Gusic, A. Maresca, L. Caporali, Flavia Palombo, F. Tagliavini, E.H. Baugh, B. MacAo, Z. Szilagyi, C. Peron, M.A. Gustafson, K. Khan, C. La Morgia, P. Barboni, M. Carbonelli, M.L. Valentino, R. LiguoriV. Shashi, J. Sullivan, S. Nagaraj, M. El-Dairi, A. Iannaccone, I. Cutcutache, E. Bertini, R. Carrozzo, F. Emma, F. Diomedi-Camassei, C. Zanna, M. Armstrong, M. Page, N. Stong, S. Boesch, R. Kopajtich, S. Wortmann, W. Sperl, E.E. Davis, W.C. Copeland, M. Seri, M. Falkenberg, H. Prokisch, N. Katsanis, V. Tiranti, T. Pippucci, V. Carelli

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)108-125
Number of pages18
JournalJournal of Clinical Investigation
Volume130
Issue number1
DOIs
Publication statusPublished - 2020

Cite this