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Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

Authors

  • Irene Colombo Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy PubMed articlesGoogle scholar articles
  • Serena Pagliarani Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Dino Ferrari Centre, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy PubMed articlesGoogle scholar articles
  • Silvia Testolin Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy PubMed articlesGoogle scholar articles
  • Claudia Maria Cinnante Unit of Neuroradiology, Department of Neuroscience, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy PubMed articlesGoogle scholar articles
  • Gigliola Fagiolari Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy PubMed articlesGoogle scholar articles
  • Patrizia Ciscato Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy PubMed articlesGoogle scholar articles
  • Andreina Bordoni Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Dino Ferrari Centre, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy PubMed articlesGoogle scholar articles
  • Francesco Fortunato Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Dino Ferrari Centre, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy PubMed articlesGoogle scholar articles
  • Francesca Magri Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Dino Ferrari Centre, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy PubMed articlesGoogle scholar articles
  • Stefano Carlo Previtali Division of Neuroscience and Department of Neurology, Institute of Experimental Neurology (INSPE), IRCCS San Raffaele Scientific Institute, Milan, Italy PubMed articlesGoogle scholar articles
  • Daniele Velardo Division of Neuroscience and Department of Neurology, Institute of Experimental Neurology (INSPE), IRCCS San Raffaele Scientific Institute, Milan, Italy PubMed articlesGoogle scholar articles
  • Monica Sciacco Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy PubMed articlesGoogle scholar articles
  • Giacomo Pietro Comi Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Dino Ferrari Centre, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy PubMed articlesGoogle scholar articles
  • Maurizio Moggio Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Irene Colombo, Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Via F Sforza 35, Milano 20122, Italy; irene_colombo{at}libero.it IC and SP contributed equally to this manuscript.
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Citation

Colombo I, Pagliarani S, Testolin S, et al
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation
Journal of Neurology, Neurosurgery & Psychiatry 2016;87:797-800.

Publication history

  • Received February 6, 2015
  • Revised July 2, 2015
  • Accepted July 6, 2015
  • First published July 22, 2015.
Online issue publication 
June 14, 2016

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