MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

S Donkervoort, R Sabouny, P Yun, L Gauquelin, K R Chao, Y Hu, I Al Khatib, A Töpf, P Mohassel, B B Cummings, R Kaur, D Saade, S A Moore, L B Waddell, M A Farrar, J K Goodrich, P Uapinyoying, S H S Chan, A Javed, M E LeachP Karachunski, J Dalton, L Medne, A Harper, C Thompson, I Thiffault, S Specht, R E Lamont, C Saunders, H Racher, F P Bernier, D Mowat, N Witting, J Vissing, R Hanson, K A Coffman, M Hainlen, J S Parboosingh, A Carnevale, G Yoon, R E Schnur, K M Boycott, J K Mah, V Straub, A Reghan Foley, A M Innes, C G Bönnemann, T E Shutt, Care4Rare Canada ConsortiumVis 29 andreVis mindre