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作 者:奚剑英[1] 任惠民[1] 卢家红[1] 汪寅[1] 黄俊[1] 朱雯华[1] 林洁[1]
出 处:《中国临床神经科学》2007年第3期296-301,共6页Chinese Journal of Clinical Neurosciences
摘 要:目的:探讨dysferlin肌病的临床和病理特点。方法:对9例患者的肌肉病理标本进行组织化学和免疫组化染色检查,并对肌肉组织进一步行dysferlin蛋白的Westernblot分析。结果:9例患者中确诊6例为dysferlin肌病,病理表现均为肌源性损害,无边缘空泡,其中2例患者的病理分析有炎细胞浸润。根据临床表现特点,6例患者中有3例为Miyoshi肌病(MM),2例为肢带型肌营养不良2B型(LGMD2B),1例为远端前群肌病(DACM)。结论:Dysferlin肌病在肌电图上为肌源性损害、肌酶显著升高,其临床表现多样,dysferlin免疫组化染色联合Westernblot有着重要诊断意义。To investigate the clinical and pathological characteristics of dysferlinopathy. Methods: The pathological characteristics of 9 cases were examined by the methods of histochemistry and immunohistochemistry. Levels of dysferlin expression were analyzed by Western blot. Results : 6 of the 9 patient were diagnosed as dysferlinopathies. All 6 cases showed myopathic pattern without rimmed vacuoles, and 2 of them have some inflammatory cells infiltration. According to the clinical features, 3 cases were diagnosed as Miyoshi myopathy(MM), 2 as limb girdle muscle dystrophy 2B(LGMD 2B) and 1 as distal anterior compartment myopathy(DACM). Conclusion : Dysferlinopathy is a kind of myopathy with high serum creatase and various clinical manifestation, and combination of Western blot and immunohistochemistry examination of dysferlin can be contributed to the diagnosis of dysferlinopathy.
关 键 词:dysferlin肌病 肢带型肌营养不良2B型 MIYOSHI肌病 远端前群肌病
分 类 号:R746[医药卫生—神经病学与精神病学]
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