遗传性镶边空泡肌病，在肌肉组织中显示间质淀粉样沉积。
Hereditary rimmed vacuole myopathy showing interstitial amyloid deposition in muscle tissue.
作者信息
Kojima Yukiko, Sakai Kenji, Ishida Chiho, Asaka Tomoya, Hamaguchi Tsuyoshi, Nozaki Ichiro, Fukushima Kazuhiro, Tsuchiya Ayako, Kametani Fuyuki, Yazaki Masahide, Okino Soichi, Yamada Masahito
机构信息
Department of Neurology, Ishikawa Prefectural Central Hospital, 2-1 Kuratsukihigashi, Kanazawa 920-8530, Japan.
出版信息
Muscle Nerve. 2009 Sep;40(3):472-5. doi: 10.1002/mus.21373.
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.
我们描述了一个近亲家族，该家族患有伴有镶边空泡（RV）形成和淀粉样蛋白沉积的进行性肌病。患者1是一名71岁女性，腰带和下肢有肌肉萎缩。患者2是一名40岁男性（患者1的儿子），股二头肌有脂肪变性。肌肉活检显示有肌病性和神经源性变性，伴有RV、坏死纤维和间质淀粉样蛋白沉积。淀粉样蛋白沉积仅在肌肉组织中检测到。
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