Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Foley, A R, Menezes, M P, Pandraud, A, Gonzalez, M A, Al-Odaib, A, Abrams, A J, Sugano, K, Yonezawa, A, Manzur, A Y, Burns, J, Hughes, I, McCullagh, B G, Jungbluth, H, Lim, M J, Lin, J-P, Megarbane, A, Urtizberea, J A, Shah, A H, Antony, J, Webster, R, Broomfield, A, Ng, J, Mathew, A A, O'Byrne, J J, Forman, E, Scoto, M, Prasad, M, O'Brien, K, Olpin, S, Oppenheim, M, Hargreaves, I, Land, J M, Wang, M X, Carpenter, K, Horvath, R, Straub, V, Lek, M, Gold, W, Farrell, M O, Brandner, S, Phadke, R, Matsubara, K, McGarvey, M L, Scherer, S S, Baxter, P S, King, M D, Clayton, P, Rahman, S, Reilly, M M, Ouvrier, R A, Christodoulou, J, Zuechner, S, Muntoni, F & Houlden, H 2014, 'Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2', Brain, vol. 137, no. 1, pp. 44-56. https://doi.org/10.1093/brain/awt315