Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T Dechene, Marc Bitoun, Christopher R Pierson, Elise Schaefer, Hatice Karasoy, Melissa A Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S Greenleaf, Melissa A Barger, Lane J Mahoney, Peter B Kang, Edmar Zanoteli, John VissingNanna Witting, Andoni Echaniz-Laguna, Carina Wallgren-Pettersson, James Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary S B Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, Alain Furby, Jose E Barcena Llona, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin-Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine Mathews, Lori A H Erby, Stephen A Smith, Jennifer Roggenbuck, Carol A Crowe, Allison Brennan Spitale, Sheila C Johal, Anthony A Amato, Laurie A Demmer, Jessica Jonas, Basil T Darras, Thomas D Bird, Mercy Laurino, Selman I Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean-Louis Mandel, Alan H Beggs, Jocelyn Laporte

    79 Citations (Scopus)

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    Medicine & Life Sciences