Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
FXR1 肌肉特异性异构体的隐性突变导致先天性多小核肌病
期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-019-08548-9
María Cristina Estañ, Elisa Fernández-Núñez, Maha S Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción