Brinas, Laura; Richard, Pascale; Quijano-Roy, Susana; Gartioux, Corine; Ledeuil, Celine; Lacene, Emmanuelle; Makri, Samira; Ferreiro, Ana; Maugenre, Svetlana; Topaloglu, Haluk; Haliloglu, Goknur; Penisson-Besnier, Isabelle; Jeannet, Pierre-Yves; Merlini, Luciano; Navarro, Carmen; Toutain, Annick; Chaigne, Denys; Desguerre, Isabelle; de Die-Smulders, Christine; Dunand, Murielle; Echenne, Bernard; Eymard, Bruno; Kuntzer, Thierry; Maincent, Kim; Mayer, Michele; Plessis, Ghislaine; Rivier, Francois; Roelens, Filip; Stojkovic, Tanya; Lia Taratuto, Ana; Lubieniecki, Fabiana; Monges, Soledad; Tranchant, Christine; Viollet, Louis; Romero, Norma B.; Estournet, Brigitte; Guicheney, Pascale; Allamand, Valerie (Wiley, 2010)
Objective: Mutations in the genes encoding the extracellular matrix protein collagen VI (ColVI) cause a spectrum of disorders with variable inheritance including Ullrich congenital muscular dystrophy, Bethlem myopathy, and ...