Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo, Claudia Zanna, Neville Patel, Michael A. Gonzalez, Ion J. Campeanu, Laurie B. Griffin, Saskia Groenewald, Alleene V. Strickland, Feifei Tao, Fiorella Speziani, Lisa Abreu, Rebecca Schüle, Leonardo Caporali, Chiara La Morgia, Alessandra Maresca, Rocco Liguori, Raffaele Lodi, Zubair M. AhmedKristen L. Sund, Xinjian Wang, Laura A. Krueger, Yanyan Peng, Carlos E. Prada, Cynthia A. Prows, Elizabeth K. Schorry, Anthony Antonellis, Holly H. Zimmerman, Omar A. Abdul-Rahman, Yaping Yang, Susan M. Downes, Jeffery Prince, Flavia Fontanesi, Antonio Barrientos, Andrea H. Németh, Valerio Carelli, Taosheng Huang, Stephan Zuchner, Julia E. Dallman

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Medicine & Life Sciences