title: Hereditary rimmed vacuole myopathy showing interstitial amyloid deposition in muscle tissue.
abstract: We describe a consanguineous family that had progressive myopathy with rimmed vacuole (RV) formation and amyloid deposition. Patient 1 is a 71-year-old woman with muscle atrophy in the lumbar girdle and lower extremities. Patient 2 is a 40-year-old man (the son of Patient 1) with fatty changes in the biceps femoris muscles. Muscle biopsies revealed myopathic and neurogenic degeneration with RV, necrotic fibers, and interstitial amyloid deposition. Amyloid deposition was detected only in the muscle tissue.
authors.affiliation: Department of Neurology, Ishikawa Prefectural Central Hospital, 2-1 Kuratsukihigashi, Kanazawa 920-8530, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kojima
authors.forename: Kenji
authors.initials: K
authors.lastname: Sakai
authors.forename: Chiho
authors.initials: C
authors.lastname: Ishida
authors.forename: Tomoya
authors.initials: T
authors.lastname: Asaka
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Hamaguchi
authors.forename: Ichiro
authors.initials: I
authors.lastname: Nozaki
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Fukushima
authors.forename: Ayako
authors.initials: A
authors.lastname: Tsuchiya
authors.forename: Fuyuki
authors.initials: F
authors.lastname: Kametani
authors.forename: Masahide
authors.initials: M
authors.lastname: Yazaki
authors.forename: Soichi
authors.initials: S
authors.lastname: Okino
authors.forename: Masahito
authors.initials: M
authors.lastname: Yamada
mesh_terms: D000328:Adult; D000368:Aged; D000682:Amyloid / Q000378:metabolism*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009132:Muscles / Q000378:metabolism* / Q000473:pathology / Q000648:ultrastructure; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D014617:Vacuoles / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure
chemical_list: D000682:Amyloid