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Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca(2+)-Induced Exocytosis in Human Myoblasts

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 mutations, the variants p.A618T and p.S619L lead to a gain of function and cause a se...

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Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9499313/ https://www.ncbi.nlm.nih.gov/pubmed/36142275 http://dx.doi.org/10.3390/ijms231810363

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