title: GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
abstract: Analysis for GNE mutations was performed in an American, non-Iranian Jewish, family with quadriceps-sparing inclusion body myopathy (QS-IBM) and in 11 patients with sporadic IBM (s-IBM). Two novel nonallosteric site missense mutations were found in the QS-IBM kinship. No mutations were identified in s-IBM patients. After 8 years of follow-up and severe disease progression, the quadriceps muscle in the QS-IBM patient remains strong despite subclinical involvement documented with repeat MRI and muscle biopsy.
authors.affiliation: Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: Olavo M
authors.initials: OM
authors.lastname: Vasconcelos
authors.forename: Raghavan
authors.initials: R
authors.lastname: Raju
authors.forename: Marinos C
authors.initials: MC
authors.lastname: Dalakas
mesh_terms: D000328:Adult; D002238:Carbohydrate Epimerases / Q000235:genetics*; D003001:Cloning, Molecular; D018450:Disease Progression; D029968:Escherichia coli Proteins; D005091:Exons / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D018979:Myositis, Inclusion Body / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012313:RNA / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D029968:Escherichia coli Proteins; D012313:RNA; D002238:Carbohydrate Epimerases; C100033:UDP acetylglucosamine-2-epimerase; C083982:wecB protein, E coli