Citations for
1LGMD2Z, POGLUT1
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C.
Acta Neuropathol. Mar;139(3):565-582. doi: 10.1007/s00401-019-02117-6. Epub 2020 Jan 3 2020
2LGMD2Z, POGLUT1
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
Servián-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gómez E, Rivas E, Nieto-González JL, Rivero MC, Cabrera-Serrano M, Gómez-Sánchez L, Martínez-López JA, Estrada B, Márquez C, Morgado Y, Suárez-Calvet X, Pita G, Bigot A, Gallardo E, Fernández-Chacón R, Hirano M, Haltiwanger RS, Jafar-Nejad H, Paradas C.
EMBO Mol Med. Nov 2;8(11):1289-1309. doi: 10.15252/emmm.201505815. Print 2016 Nov. 2016