Browsing by Author "Taratuto, Ana Lia"

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    • 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 ...