Article
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
Human molecular genetics - 15 Dec 2010
Durieux Anne-Cécile, Vignaud Alban, Prudhon Bernard, Viou Mai Thao, Beuvin Maud, Vassilopoulos Stéphane, Fraysse Bodvaël, Ferry Arnaud, Lainé Jeanne, Romero Norma B, Guicheney Pascale, Bitoun Marc
Abstract excerpt
Autosomal dominant centronuclear myopathy (AD-CNM) is due to mutations in the gene encoding dynamin 2 (DNM2) involved in endocytosis and intracellular membrane trafficking. To understand the pathomechanisms resulting from a DNM2 mutation, we generated a knock-in mouse model expressing the most fr...
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