학술논문
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
Document Type
Article
Author
Servián-Morilla, E.; Cabrera-Serrano, M.; Paradas, C.; Rivas, E.; Johnson, K.; Töpf, A.; Straub, V.; Pandey, A.; Jafar-Nejad, H.; Ito, A.; Takeuchi, M.; Hao, H.; Haltiwanger, R.S.; Chamova, T.; Taneva, A.; Tournev, I.; Muelas, N.; Vilchez, J.J.; Mongini, T.; Nafissi, S.; Claeys, K.G.; Grewal, R.P.; Bönnemann, C.; Lopes Abath Neto, O.; Medne, L.; Brandsema, J.; Takeuchi, H.
Source
In: Acta Neuropathologica . (Acta Neuropathologica, 1 March 2020, 139(3):565-582)
Subject
Language
English
ISSN
14320533
00016322
00016322