Adult onset reducing body myopathy
Adult onset reducing body myopathy
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DOI：
10.1016/s0960-8966(99)00058-9
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发表时间：
1999-12-01
影响因子：
2.8
通讯作者：
Pellissier, JF
中科院分区：
文献类型：
--
作者：
Figarella-Branger, D;Putzu, GA;Pellissier, JF
我们报告一例28岁女性，自24岁起患有左肩胛骨综合征。病程进展缓慢，4年后观察到弥漫性无力。血清肌酸激酶水平中度升高（正常值的 3 倍），肌电图显示混合的神经源性和肌源性模式。肌肉活检显示 I 型占优势，肌纤维中存在大量还原体。还原体与抗肌营养不良蛋白、α-肌聚糖、波形蛋白和泛素的抗体具有强烈的免疫反应性。一些还原体周围结蛋白免疫反应性增加，但αB晶状体蛋白、α肌动蛋白、肌联蛋白和星云蛋白呈阴性。蛋白质印迹分析显示肌营养不良蛋白、波形蛋白和结蛋白表达增加。从超微结构上看，还原体由管状丝状材料组成，直径为 17 nm，并与抗 Dys 2 抗体发生免疫反应。在一些还原体的外围观察到与抗结蛋白抗体发生免疫反应的粒丝材料。该报告进一步强调了还原体的蛋白质组成，并表明可能发生迟发性还原体肌病。 (C) 1999 Elsevier Science B.V. 保留所有权利。
We report the case of a 28 year-old woman with left scapuloperoneal syndrome since the age of 24. The course was slowly progressive and diffuse weakness was observed 4 years later. Serum creatine kinase levels were moderately elevated (x3 normal value) and EMG showed mixed neurogenic and myogenic patterns. Muscle biopsy showed type I predominance and numerous reducing bodies in muscle fibers. Reducing bodies were strongly immunoreactive with antibodies to dystrophin, alpha-sarcoglycan, vimentin and ubiquitin. Desmin immunoreactivity was increased at the periphery of some reducing bodies but alpha B crystallin, alpha actinin, titin and nebulin were negative. Western blot analysis showed an increase in dystrophin, vimentin and desmin expression. Ultrastructurally, reducing bodies were composed of tubulofilamentous material, 17 nm in diameter, and immunoreactive with anti-Dys 2 antibody. Granulofilamentous material, immunoreactive with anti-desmin antibody was observed at the periphery of some reducing bodies. This report further highlights the proteinic composition of reducing bodies and shows that late onset reducing body myopathy may occur. (C) 1999 Elsevier Science B.V. All rights reserved.