Hereditary rimmed vacuole myopathy showing interstitial amyloid deposition in muscle tissue.
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.
Kojima
Yukiko
Y
Department of Neurology, Ishikawa Prefectural Central Hospital, 2-1 Kuratsukihigashi, Kanazawa 920-8530, Japan.
Sakai
Kenji
K
Ishida
Chiho
C
Asaka
Tomoya
T
Hamaguchi
Tsuyoshi
T
Nozaki
Ichiro
I
Fukushima
Kazuhiro
K
Tsuchiya
Ayako
A
Kametani
Fuyuki
F
Yazaki
Masahide
M
Okino
Soichi
S
Yamada
Masahito
M
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
D000682:Amyloid