Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

por Lefeuvre, Claire, Schaeffer, Stéphane, Carlier, Robert-Yves, Fournier, Maxime, Chapon, Françoise, Biancalana, Valérie, Nicolas, Guillaume, Malfatti, Edoardo, Laforêt, Pascal
Publicado no Mol Genet Metab Rep (2020)

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

por Laforêt, Pascal, Inoue, Michio, Goillot, Evelyne, Lefeuvre, Claire, Cagin, Umut, Streichenberger, Nathalie, Leonard-Louis, Sarah, Brochier, Guy, Madelaine, Angeline, Labasse, Clemence, Hedberg-Oldfors, Carola, Krag, Thomas, Jauze, Louisa, Fabregue, Julien, Labrune, Philippe, Milisenda, Jose, Nadaj-Pakleza, Aleksandra, Sacconi, Sabrina, Mingozzi, Federico, Ronzitti, Giuseppe, Petit, François, Schoser, Benedikt, Oldfors, Anders, Vissing, John, Romero, Norma B., Nishino, Ichizo, Malfatti, Edoardo
Publicado no Acta Neuropathol Commun (2019)