학술논문
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
Document Type
Article
Author
Donkervoort, S.; Yun, P.; Hu, Y.; Mohassel, P.; Kaur, R.; Saade, D.; Uapinyoying, P.; Leach, M.E.; Foley, A.R.; Bönnemann, C.G.; Sabouny, R.; Al Khatib, I.; Shutt, T.E.; Gauquelin, L.; Carnevale, A.; Yoon, G.; Chao, K.R.; Cummings, B.B.; Goodrich, J.K.; Töpf, A.; Specht, S.; Straub, V.; Moore, S.A.; Waddell, L.B.; Farrar, M.A.; Mowat, D.; Chan, S.H.S.; Javed, A.; Karachunski, P.; Dalton, J.; Medne, L.; Harper, A.; Thompson, C.; Thiffault, I.; Saunders, C.; Hanson, R.; Lamont, R.E.; Racher, H.; Bernier, F.P.; Parboosingh, J.S.; Innes, A.M.; Witting, N.; Vissing, J.; Coffman, K.A.; Hainlen, M.; Schnur, R.E.; Boycott, K.M.; Mah, J.K.
Source
In: Acta Neuropathologica . (Acta Neuropathologica, 1 December 2019, 138(6):1013-1031)
Subject
Language
English
ISSN
14320533
00016322
00016322