Dynamin 2 mutations associated with huma
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Marc Bitoun; Anne-CΓ©cile Durieux; Bernard Prudhon; Jorge A. Bevilacqua; Adrien H
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Article
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2009
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John Wiley and Sons
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English
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Dynamin 2 (DNM2) is a large GTPase involved in the release of nascent vesicles during endocytosis and intracellular membrane trafficking. Distinct DNM2 mutations, affecting the middle domain (MD) and the Pleckstrin homology domain (PH), have been identified in autosomal dominant centronuclear myopat