Browsing by Author "ae30b171-8f06-481a-888c-9b16b86a0e6d"

Now showing items 1-2 of 2

    • "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, 2009)
      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 ...
    • The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle ... 
      Bevilacqua, Jorge; Guecaimburu Ehuletche, María del Rosario; Perna, Abayuba; Dubrovsky, Alberto; Franca, Marcondes C.; Vargas, Steven; Hegde, Madhuri; Claeys, Kristl G.; Straub, Volker; Daba, Nadia; Faria, Roberta; Periquet, Magali; Sparks, Susan; Thibault, Nathan; Araujo, Roberto (BMC, 2020)
      Background Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving ...