Article
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Human mutation - 1 Jun 2012
Böhm Johann, Biancalana Valérie, Dechene Elizabeth T, Bitoun Marc, Pierson Christopher R, Schaefer Elise, Karasoy Hatice, Dempsey Melissa A, Klein Fabrice, Dondaine Nicolas, Kretz Christine, Haumesser Nicolas, Poirson Claire, Toussaint Anne, Greenleaf Rebecca S, Barger Melissa A, Mahoney Lane J, Kang Peter B, Zanoteli Edmar, Vissing John, Witting Nanna, Echaniz-Laguna Andoni, Wallgren-Pettersson Carina, Dowling James, Merlini Luciano, Oldfors Anders, Bomme Ousager Lilian, Melki Judith, Krause Amanda, Jern Christina, Oliveira Acary S B, Petit Florence, Jacquette Aurélia, Chaussenot Annabelle, Mowat David, Leheup Bruno, Cristofano Michele, Poza Aldea Juan José, Michel Fabrice, Furby Alain, Llona Jose E Barcena, Van Coster Rudy, Bertini Enrico, Urtizberea Jon Andoni, Drouin-Garraud Valérie, Béroud Christophe, Prudhon Bernard, Bedford Melanie, Mathews Katherine, Erby Lori A H, Smith Stephen A, Roggenbuck Jennifer, Crowe Carol A, Brennan Spitale Allison, Johal Sheila C, Amato Anthony A, Demmer Laurie A, Jonas Jessica, Darras Basil T, Bird Thomas D, Laurino Mercy, Welt Selman I, Trotter Cynthia, Guicheney Pascale, Das Soma, Mandel Jean-Louis, Beggs Alan H, Laporte Jocelyn
Abstract excerpt
Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have...
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