Journal article

Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy

Olga S Koutsopoulos, Catherine Koch, Valerie Tosch, Johann Boehm, Kathryn N North, Jocelyn Laporte

PLoS One | PUBLIC LIBRARY SCIENCE | Published : 2011


The large GTPase dynamin 2 is a key player in membrane and cytoskeletal dynamics mutated in centronuclear myopathy (CNM) and Charcot-Marie Tooth (CMT) neuropathy, two discrete dominant neuromuscular disorders affecting skeletal muscle and peripheral nerves respectively. The molecular basis for the tissue-specific phenotypes observed and the physiopathological mechanisms linked to dynamin 2 mutations are not well established. In this study, we have analyzed the impact of CNM and CMT implicated dynamin 2 mutants using ectopic expression of four CNM and two CMT mutations, and patient fibroblasts harboring two dynamin 2 CNM mutations in established cellular processes of dynamin 2 action. Wild ty..

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Awarded by Fondation Recherche Medicale

Awarded by Agence Nationale de la Recherche

Funding Acknowledgements

This study was supported by grants from the Institut National de la Sante et de la Recherche Medicale (INSERM), the Centre National de la Recherche Scientifique (CNRS), University of Strasbourg (UdS), College de France, Association Francaise contre les Myopathies (AFM), Fondation Recherche Medicale (DEQ20071210538), E-rare program, and Agence Nationale de la Recherche (ANR-07-BLAN-0065-01 and ANR-08-GENOPAT-005). Johann Bohm was supported by the Deutsche Forschungsgemeinschaft (DFG). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.