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  • Gain-of-function dynamin-2 mutations linked to centronuclear myopathy impair ca2+-induced exocytosis in human myoblasts 

    Bayonés, Lucas; Guerra-Fernández, María José; Hinostroza, Fernando; Báez-Matus, Ximena; Vásquez-Navarrete, Jacqueline; Gallo, Luciana I; Parra, Sergio; Martínez, Agustín D.; González-Jamett, Arlek; Marengo, Fernando D.; Cárdenas, Ana M. (2022)
    Gain-of-function mutations of dynamin-2, a mechano-GTPase that remodels membrane and actin filaments, cause centronuclear myopathy (CNM), a congenital disease that mainly affects skeletal muscle tissue. Among these ...