POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

Emilia Servián‐Morilla, Macarena Cabrera‐Serrano, Katherine Johnson, Ashutosh Pandey, Atsuko Ito, Eloy Rivas, Teodora Chamova, Nuria Muelas, Tiziana Mongini, Shahriar Nafissi, Kristl G. Claeys, Raji P. Grewal, Megumi Takeuchi, Huilin Hao, Carsten G. Bönnemann, Osório Lopes Abath Neto, Līvija Medne, John F. Brandsema, Ana Töpf, Ani Taneva, Juan J. Vílchez, Ivailo Tournev, Robert S. Haltiwanger, Hideyuki Takeuchi, Hamed Jafar‐Nejad, Volker Straub, Carmen Paradas