title: GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
abstract: The authors describe a family in which two individuals have clinical distal myopathy with rimmed vacuoles (DMRV). While the clinical and most of the pathologic features in these patients were compatible with a diagnosis of DMRV, the presence of inflammatory changes in the connective tissue between muscle fibers was not. Gene analysis revealed a compound heterozygous mutation in these individuals, characterized by V572L and I472T.
authors.affiliation: Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan. yabe@med.hokudai.ac.jp
authors.forename: I
authors.initials: I
authors.lastname: Yabe
authors.forename: T
authors.initials: T
authors.lastname: Higashi
authors.forename: S
authors.initials: S
authors.lastname: Kikuchi
authors.forename: H
authors.initials: H
authors.lastname: Sasaki
authors.forename: T
authors.initials: T
authors.lastname: Fukazawa
authors.forename: K
authors.initials: K
authors.lastname: Yoshida
authors.forename: K
authors.initials: K
authors.lastname: Tashiro
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D002238:Carbohydrate Epimerases / Q000235:genetics*; D003238:Connective Tissue / Q000473:pathology; D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D009220:Myositis / Q000473:pathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D014617:Vacuoles / Q000473:pathology
chemical_list: D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase; D017853:Phosphotransferases (Alcohol Group Acceptor); C018765:N-acylmannosamine kinase; D002238:Carbohydrate Epimerases; C100033:UDP acetylglucosamine-2-epimerase