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

      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 Cuenca, GabrielAutoridad UAM; 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.
      2019