Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Por Estañ, María Cristina, Fernández-Núñez, Elisa, Zaki, Maha S., Esteban, María Isabel, Donkervoort, Sandra, Hawkins, Cynthia, Caparros-Martin, José A., Saade, Dimah, Hu, Ying, Bolduc, Véronique, Chao, Katherine Ru-Yui, Nevado, Julián, Lamuedra, Ana, Largo, Raquel, Herrero-Beaumont, Gabriel, Regadera, Javier, Hernandez-Chico, Concepción, Tizzano, Eduardo F., Martinez-Glez, Victor, Carvajal, Jaime J., Zong, Ruiting, Nelson, David L., Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Issa, Mahmoud, Bönnemann, Carsten G., Lapunzina, Pablo, Yoon, Grace, Ruiz-Perez, Victor L.
Publicado no Nat Commun (2019)