Browsing by Subject "Centronuclear myopathy"

Now showing items 1-4 of 4

    • 'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies 
      Garibaldi, Matteo; Rendu, John; Brocard, Julie; Lacene, Emmanuelle; Fauré, Julien; Brochier, Guy; Beuvin, Maud; Labasse, Clemence; Madelaine, Angeline; Malfatti, Edoardo; Bevilacqua, Jorge Alfredo; Lubieniecki, Fabiana; Monges, Soledad; Taratuto, Ana Lia; Laporte, Joce (NLM (Medline), 2019)
      Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large ...
    • Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis 
      Bitoun, Marc; Durieux, Anne Cécile; Prudhon, Bernard; Bevilacqua, Jorge; Herledan, Adrien; Sakanyan, Vehary; Urtizberea, Andoni; Cartier Rovirosa, Luis; Romero, Norma B.; Guicheney, Pascale (2009)
      Dynamin 2 (DNM2) is a large GTPase involved in the release of nascent vesicles during endocytosis and intracellular membrane trafficking. Distinct DNM2 mutations, affecting the middle domain (MD) and the Pleckstrin homology ...
    • Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy 
      Wang, Haicui; Castiglioni, Claudia; Bayram, Ayse Kacar; Fattori, Fabiana; Pekuz, Serdar; Araneda, Diego; Per, Huseyin; Erazo, Ricardo; Gumus, Hakan; Zorludemir, Suzan; Becker, Kerstin; Ortega, Ximena; Bevilacqua, Jorge; Bertini, Enrico; Cirak, Sebahattin (Elsevier, 2017)
      Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance ...
    • "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 ...