title: An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
authors.affiliation: Institute of Neurology, Catholic University, Rome, Italy. abroccolini@tiscali.it
authors.forename: A
authors.initials: A
authors.lastname: Broccolini
authors.forename: M
authors.initials: M
authors.lastname: Pescatori
authors.forename: A
authors.initials: A
authors.lastname: D'Amico
authors.forename: A
authors.initials: A
authors.lastname: Sabino
authors.forename: G
authors.initials: G
authors.lastname: Silvestri
authors.forename: E
authors.initials: E
authors.lastname: Ricci
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: P A
authors.initials: PA
authors.lastname: Tonali
authors.forename: M
authors.initials: M
authors.lastname: Mirabella
mesh_terms: D002238:Carbohydrate Epimerases / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D029968:Escherichia coli Proteins; D005091:Exons / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007558:Italy; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009154:Mutation / Q000235:genetics* / Q000502:physiology; D018979:Myositis, Inclusion Body / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D029968:Escherichia coli Proteins; D002238:Carbohydrate Epimerases; C100033:UDP acetylglucosamine-2-epimerase; C083982:wecB protein, E coli