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Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study od Ng, YS, Martikainen, MH, Gorman, GS, Blain, A, Bugiardini, E, Bunting, A, Schaefer, AM, Alston, CL, Blakely, EL, Sharma, S, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Roberts, M, Woodward, CE, Chinnery, PF, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, MG, Pitceathly, RDS, Taylor, RW, Turnbull, DM, McFarland, R

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency od Hathazi, D, Griffin, H, Jennings, MJ, Giunta, M, Powell, C, Pearce, SF, Munro, B, Wei, W, Boczonadi, V, Poulton, J, Pyle, A, Calabrese, C, Gomez-Duran, A, Schara, U, Pitceathly, RDS, Hanna, MG, Joost, K, Cotta, A, Paim, JF, Navarro, MM, Duff, J, Mattman, A, Chapman, K, Servidei, S, Della Marina, A, Uusimaa, J, Roos, A, Mootha, V, Hirano, M, Tulinius, M, Giri, M, Hoffmann, EP, Lochmüller, H, DiMauro, S, Minczuk, M, Chinnery, PF, Müller, JS, Horvath, R