Browsing by Author "Fardeau, Michel"

Now showing items 1-3 of 3

    • Dynamin 2 Mutations Cause Sporadic Centronuclear Myopathy with Neonatal Onset 
      Bitoun, Marc; Bevilacqua, Jorge; Prudhon, Bernard; Maugenre, Svetlana; Taratuto, Ana Lia; Monges, Soledad; Lubieniecki, Fabiana; Cances, Claude; Uro-Coste, Emmanuelle; Mayer, Michèle; Fardeau, Michel; Romero, Norma Beatriz; Guicheney, Pascale (Wiley-Liss, 2007-12)
      We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years. They all presented with neonatal hypotonia with weak suckling. Thereafter, their phenotype progressively ...
    • “Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy 
      Bevilacqua, Jorge; Bitoun, Marc; Biancalana, Valérie; Oldfors, Anders; Stoltenburg, Gisela; Claeys, Kristl G.; Lacène, Emmanuelle; Brochier, Guy; Manéré, Linda; Laforêt, Pascal; Eymard, Bruno; Guicheney, Pascale; Fardeau, Michel; Romero, Norma Beatriz (Springer-Verlag, 2008-12-16)
      Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (MTM1) are usually associated with severe neonatal X-linked myotubular myopathy (XLMTM). However, mutations in MTM1 have also been ...
    • Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a ... 
      Romero, Norma Beatriz; Bevilacqua, Jorge; Oldfors, Anders; Fardeau, Michel (PERGAMON-ELSEVIER SCIENCE LTD, 2011-02)