title: Distal myopathy with rimmed vacuoles in a case of opercular syndrome.
abstract: We report the case of a 30-year-old man with opercular syndrome who developed distal myopathy with rimmed vacuoles (DMRV). Muscle biopsy showed variation in fiber size and scattered fibers with rimmed vacuoles. The identification of a homozygous c. 1714G>C (p. V572L) mutation in the GNE gene genetically confirmed the diagnosis of DMRV, which is thought to be identical to hereditary inclusion body myopathy (HIBM). Our results indicate the possibility that other organs such as the central nervous system could be affected in DMRV/HIBM, although bilateral opercular lesions might have been caused by destructive events either in utero or in the perinatal period.
authors.affiliation: Department of Pediatrics, Shimane University School of Medicine, Izumo 693-8501, Japan. toriumi@r3.dion.ne.jp
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Toriumi
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Takusa
authors.forename: Atsushi
authors.initials: A
authors.lastname: Uchiyama
authors.forename: Masahiko
authors.initials: M
authors.lastname: Kimura
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Sejima
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Isematsu
authors.initials: I
authors.lastname: Eda
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D000328:Adult; D049310:Distal Myopathies / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000502:physiology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation; D014057:Tomography, X-Ray Computed / Q000379:methods; D014617:Vacuoles / Q000473:pathology*
chemical_list: D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase