title: A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.
abstract: An adult-onset hereditary inclusion body myopathy with sparing of the quadriceps muscle was originally described in Iranian Jews and assigned to a locus on chromosome 9p12-p13. Recently, mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene were reported to cause hereditary inclusion body myopathy and one type of distal myopathy in a world-wide distribution. Importantly, the lack of muscle inflammation was used to distinguish hereditary inclusion body myopathy from the sporadic form of inclusion body myopathy. We report a case of a quadriceps-sparing myopathy in a non-Jewish, Iranian patient with a high degree of muscle inflammation. A novel homozygous G-to-A mutation (128933G-->A) in exon 7 changing a valine to isoleucine (V367I) in the epimerase domain of the GNE gene was found. We conclude that muscle inflammation is not sufficient to exclude the diagnosis of hereditary inclusion body myopathy.
authors.affiliation: Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians University, Munich, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Krause
authors.forename: Beate
authors.initials: B
authors.lastname: Schlotter-Weigel
authors.forename: Maggie C
authors.initials: MC
authors.lastname: Walter
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Heinz
authors.initials: H
authors.lastname: Wiendl
authors.forename: Josef
authors.initials: J
authors.lastname: Müller-Höcker
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Müller-Felber
authors.forename: Dieter
authors.initials: D
authors.lastname: Pongratz
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
mesh_terms: D000328:Adult; D002238:Carbohydrate Epimerases / Q000172:deficiency* / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D015395:Histocompatibility Antigens Class I / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007249:Inflammation / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D007492:Iran; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D020125:Mutation, Missense / Q000235:genetics*; D018979:Myositis, Inclusion Body / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D014633:Valine / Q000235:genetics
chemical_list: D015395:Histocompatibility Antigens Class I; D002238:Carbohydrate Epimerases; C100033:UDP acetylglucosamine-2-epimerase; D014633:Valine