Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Human Molecular Genetics
Peng, Yanyan Y; Shinde, Deepali N DN; Valencia, C Alexander CA; Mo, Jun-Song JS; Rosenfeld, Jill J; Truitt Cho, Megan M; Chamberlin, Adam A; Li, Zhuo Z; Liu, Jie J; Gui, Baoheng B; Brockhage, Rachel R; Basinger, Alice A; Alvarez-Leon, Brenda B; Heydemann, Peter P; Magoulas, Pilar L PL; Lewis, Andrea M AM; Scaglia, Fernando F; Gril, Solange S; Chong, Shuk Ching SC; Bower, Matthew M; Monaghan, Kristin G KG; Willaert, Rebecca R; Plona, Maria-Renee MR; Dineen, Rich R; Milan, Francisca F; Hoganson, George G; Powis, Zoe Z; Helbig, Katherine L KL; Keller-Ramey, Jennifer J; Harris, Belinda B; Anderson, Laura C LC; Green, Torrian T; Sukoff Rizzo, Stacey J SJ; Kaylor, Julie J; Chen, Jiani J; Guan, Min-Xin MX; Sellars, Elizabeth E; Sparagana, Steven P SP; Gibson, James B JB; Reinholdt, Laura G LG; Tang, Sha S; Huang, Taosheng T