MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
MSTO1 突变导致线粒体 DNA 耗竭,表现为肌营养不良症和小脑受累
期刊:Acta Neuropathologica
影响因子:9.3
doi:10.1007/s00401-019-02059-z
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 Leach, P Karachunski, J Dalton, L Medne, A Harper, C Thompson, I Thiffault, S Specht