Now showing items 1-3 of 3

    • Fernández, Gabriela; Arias Bravo, Guisselle; Bevilacqua, Jorge A.; Castillo Ruíz, Mario; Caviedes Fernández, Pablo; Sáez, Juan C.; Cea, Luis A. (Elsevier, 2020)
      Dysferlinopathy is a genetic human disease caused by mutations in the gene that encodes the dysferlin protein (DYSF). Dysferlin is believed to play a relevant role in cell membrane repair. However, in dysferlin-deficient ...
    • García Campos, Paz; Báez Matus, Ximena; Jara Gutiérrez, Carlos; Paz Araos, Marilyn; Astorga, César; Cea, Luis A.; Rodríguez, Viviana; Bevilacqua, Jorge A.; Caviedes, Pablo; Cárdenas, Ana M. (MDPI, 2020)
      Dysferlinopathy is an autosomal recessive muscular dystrophy resulting from mutations in the dysferlin gene. Absence of dysferlin in the sarcolemma and progressive muscle wasting are hallmarks of this disease. Signs of ...
    • García Campos, Paz; Báez Matus, Ximena; Jara Gutiérrez, Carlos; Paz Araos, Marilyn; Astorga, César; Cea, Luis A.; Pedroza Rodríguez, Viviana; Bevilacqua, Jorge Alfredo; Caviedes Fernández, Pablo; Cárdenas, Ana M. (MDPI, 2020)
      Dysferlinopathy is an autosomal recessive muscular dystrophy resulting from mutations in the dysferlin gene. Absence of dysferlin in the sarcolemma and progressive muscle wasting are hallmarks of this disease. Signs of ...