Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
SNUPN基因的双等位基因变异会导致肢带型肌营养不良，并具有肌原纤维样特征。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awae046
Iruzubieta, Pablo; Damborenea, Alberto; Ioghen, Mihaela; Bajew, Simon; Fernandez-Torrón, Roberto; Töpf, Ana; Herrero-Reiriz, Álvaro; Epure, Diana; Vill, Katharina; Hernández-Laín, Aurelio; Manterola, María; Azkargorta, Mikel; Pikatza-Menoio, Oihane; Pérez-Fernandez, Laura; García-Puga, Mikel; Gaina, Gisela; Bastian, Alexandra; Streata, Ioana; Walter, Maggie C; Müller-Felber, Wolfgang; Thiele, Simone; Moragón, Saioa; Bastida-Lertxundi, Nerea; López-Cortajarena, Aitziber; Elortza, Felix; Gereñu, Gorka; Alonso-Martin, Sonia; Straub, Volker; de Sancho, David; Teleanu, Raluca; López de Munain, Adolfo; Blázquez, Lorea
