Browsing by Author "70feee63-731f-4afc-b2db-8c491a433329"

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    • '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 ...
    • "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 ...