title: Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.
authors.affiliation: Don Carlo Gnocchi ONLUS Foundation, Milan, Italy. giorgiotasca81@gmail.com.
authors.forename: Giorgio
authors.identifier: http://orcid.org/0000-0003-0849-9144
authors.initials: G
authors.lastname: Tasca
authors.affiliation: Unit of Neuromuscular Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
authors.forename: Fabiana
authors.initials: F
authors.lastname: Fattori
authors.affiliation: Institute of Neurology, Catholic University School of Medicine, Largo A. Gemelli 8, 00168, Rome, Italy.
authors.forename: Mauro
authors.initials: M
authors.lastname: Monforte
authors.affiliation: Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
authors.forename: Carola
authors.initials: C
authors.lastname: Hedberg-Oldfors
authors.affiliation: Institute of Neurology, Catholic University School of Medicine, Largo A. Gemelli 8, 00168, Rome, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Sabatelli
authors.affiliation: Department of Medical Genetics, Folkhälsan Institute of Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.|Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland.|Neurology Department, Vaasa Central Hospital, Vaasa, Finland.
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
authors.affiliation: Department of Pathology, Bambino Gesu' Children's Research Hospital, Rome, Italy.
authors.forename: Renata
authors.initials: R
authors.lastname: Boldrini
authors.affiliation: Unit of Neuromuscular Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.affiliation: Institute of Neurology, Catholic University School of Medicine, Largo A. Gemelli 8, 00168, Rome, Italy.
authors.forename: Enzo
authors.initials: E
authors.lastname: Ricci
authors.affiliation: Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
authors.forename: Anders
authors.initials: A
authors.lastname: Oldfors
mesh_terms: D000369:Aged, 80 and over; D018387:Codon, Initiator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005964:Glucosyltransferases / Q000235:genetics*; D006008:Glycogen Storage Disease / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D009422:Nervous System Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*
chemical_list: D018387:Codon, Initiator; D006023:Glycoproteins; C051887:glycogenin; D005964:Glucosyltransferases