title: Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
abstract: The authors present three novel missense mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, the causative gene for hereditary inclusion body myopathy, in Japanese patients with distal myopathy with rimmed vacuoles. Seven out of nine patients had homozygous V572L mutation, one was a compound heterozygote with C303V and V572L mutations, and the remaining patient bore homozygous A631V mutation.
authors.affiliation: Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Tomimitsu
authors.forename: K
authors.initials: K
authors.lastname: Ishikawa
authors.forename: J
authors.initials: J
authors.lastname: Shimizu
authors.forename: N
authors.initials: N
authors.lastname: Ohkoshi
authors.forename: I
authors.initials: I
authors.lastname: Kanazawa
authors.forename: H
authors.initials: H
authors.lastname: Mizusawa
mesh_terms: D000293:Adolescent; D000328:Adult; D002238:Carbohydrate Epimerases / Q000235:genetics*; D015331:Cohort Studies; D029968:Escherichia coli Proteins; D005260:Female; D006801:Humans; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D018979:Myositis, Inclusion Body / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D014617:Vacuoles / Q000201:enzymology / Q000235:genetics* / Q000473:pathology
chemical_list: D029968:Escherichia coli Proteins; D009097:Multienzyme Complexes; D017853:Phosphotransferases (Alcohol Group Acceptor); C018765:N-acylmannosamine kinase; D002238:Carbohydrate Epimerases; C100033:UDP acetylglucosamine-2-epimerase; C083982:wecB protein, E coli