title: Familial polyglucosan body myopathy with unusual phenotype.
authors.affiliation: Department of Neurosciences, University of Padova, Padova, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Fanin
authors.forename: Anna Chiara
authors.initials: AC
authors.lastname: Nascimbeni
authors.forename: Marco
authors.initials: M
authors.lastname: Savarese
authors.forename: Valentina
authors.initials: V
authors.lastname: Papa
authors.forename: Giovanna
authors.initials: G
authors.lastname: Cenacchi
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Nigro
authors.forename: Corrado
authors.initials: C
authors.lastname: Angelini
mesh_terms: D000368:Aged; D005260:Female; D020022:Genetic Predisposition to Disease; D006008:Glycogen Storage Disease / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics; D044767:Ubiquitin-Protein Ligases
chemical_list: D014157:Transcription Factors; C504507:RBCK1 protein, human; D044767:Ubiquitin-Protein Ligases