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Recessive mutations in muscle-specific isoforms of Fxr1 cause congenital multi-minicore myopathy

AuthorsEstañ, María Cristina ; Fernández-Núñez, Elisa; Zaki, Maha S.; Esteban Rodriguez, Isabel; Donkervoort, Sandra; Hawkins, Cynthia; Caparrós-Martín, José A. ; Saade, Dimah; Hu, Ying; Bolduc, Véronique; Ru-Yui Chao, Katherine; Nevado, Julian; Lamuedra, Ana; Largo, Raquel; Herrero-Beaumont, Gabriel; Regadera, Javier; Hernandez-Chico, Concepción; Tizzano, Eduardo F.; Martinez-Glez, Víctor; 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-Pérez, Victor L.
Issue Date15-Jun-2019
CitationEuropean Society of Human Genetics Conference (2019)
DescriptionTrabajo presentado en la European Society of Human Genetics Conference, celebrada en Göteborg (Suecia) del 15 al 18 de junio de 2019.
Appears in Collections:(IIBM) Comunicaciones congresos
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