Browsing by Subject "Recurrent mutations"

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    • Toward an objective measure of functional disability in dysferlinopathy 
      Woudt, Lisanne; Di Capua, Gabriella A.; Krahn, Martin; Castiglioni, Claudia; Hughes García, Ricardo; Campero Soffia, Mario; Trangulao, Alejandra; González Hormazabal, Patricio; Godoy Herrera, Raúl; Levy, Nicolas; Urtizberea, Jon Andoni; Jara, Lilian; Bevilacqua, Jorge (WILEY-BLACKWELL, 2016)
      Introduction: Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a cohort of patients ...