Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

Yanyan Peng, Deepali N. Shinde, C. Alexander Valencia, Jun Song Mo, Jill Rosenfeld, Megan Truitt Cho, Adam Chamberlin, Zhuo Li, Jie Liu, Baoheng Gui, Rachel Brockhage, Alice Basinger, Brenda Alvarez-Leon, Peter Heydemann, Pilar L. Magoulas, Andrea M. Lewis, Fernando Scaglia, Solange Gril, Shuk Ching Chong, Matthew BowerKristin G. Monaghan, Rebecca Willaert, Maria Renee Plona, Rich Dineen, Francisca Milan, George Hoganson, Zoe Powis, Katherine L. Helbig, Jennifer Keller-Ramey, Belinda Harris, Laura C. Anderson, Torrian Green, Stacey J. Sukoff Rizzo, Julie Kaylor, Jiani Chen, Min Xin Guan, Elizabeth Sellars, Steven P. Sparagana, James B. Gibson, Laura G. Reinholdt, Sha Tang, Taosheng Huang

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Medicine & Life Sciences