title: Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation.
authors.affiliation: Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Irene
authors.initials: I
authors.lastname: Colombo
authors.affiliation: 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.
authors.forename: Serena
authors.initials: S
authors.lastname: Pagliarani
authors.affiliation: Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Testolin
authors.affiliation: Unit of Neuroradiology, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Claudia Maria
authors.initials: CM
authors.lastname: Cinnante
authors.affiliation: Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Gigliola
authors.initials: G
authors.lastname: Fagiolari
authors.affiliation: Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Ciscato
authors.affiliation: 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.
authors.forename: Andreina
authors.initials: A
authors.lastname: Bordoni
authors.affiliation: 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.
authors.forename: Francesco
authors.initials: F
authors.lastname: Fortunato
authors.affiliation: 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.
authors.forename: Francesca
authors.initials: F
authors.lastname: Magri
authors.affiliation: Division of Neuroscience and Department of Neurology, Institute of Experimental Neurology (INSPE), IRCCS San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Stefano Carlo
authors.initials: SC
authors.lastname: Previtali
authors.affiliation: Division of Neuroscience and Department of Neurology, Institute of Experimental Neurology (INSPE), IRCCS San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Velardo
authors.affiliation: Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Sciacco
authors.affiliation: 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.
authors.forename: Giacomo Pietro
authors.initials: GP
authors.lastname: Comi
authors.affiliation: Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
mesh_terms: D000368:Aged; D005260:Female; D005964:Glucosyltransferases / Q000235:genetics*; D006008:Glycogen Storage Disease / Q000235:genetics* / Q000473:pathology*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics* / Q000473:pathology*
chemical_list: D006023:Glycoproteins; C051887:glycogenin; D005964:Glucosyltransferases
keywords: MYOPATHY; NEUROMUSCULAR