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目的:分析1例表现为“远端肌无力”的calpainopathy患者的临床、影像学及病理学特点,并与其他远端肌病相鉴别。方法:以“双下肢远端肌无力”起病的患者1例,完善体格检查、血生化、肌电图和肌肉MR检查。肌肉活检后应用免疫组化染色法观察肌细胞各种胞膜蛋白表达情况,采用免疫印迹法半定量法分析dysferlin蛋白及calpain-3蛋白水平。结果:肌肉MRI示患者以臀中肌、臀小肌、大腿后群及小腿内侧群肌肉受累为著,肌肉病理提示“肌病样”改变,组化染色未发现胞质内存在镶边空泡,免疫组化染色提示dysferlin蛋白无缺失。最终经免疫印迹检测发现该患者肌肉组织calpain-3 94 000/60 000谱带完全缺失,诊断为calpainopathy。结论:远端肌病包含疾病种类繁多,calpainopathy亦可为其中之一。肌肉影像学可为其鉴别提供一定的线索,确诊需依赖免疫印迹检测。
OBJECTIVE: To analyze the clinical, radiological and pathological features of one case of calpainopathy with “distal myasthenia gravis” and to distinguish it from other myopathies. Methods: One case of patients with onset of distal muscle weakness in both lower extremities, physical examination, blood biochemistry, electromyography and muscle MR examination. After muscle biopsy, the expression of various cell membrane protein in muscle cells was observed by immunohistochemical staining. The dysferlin protein and calpain-3 protein levels were analyzed by semi-quantitative immunoblotting. Results: Muscle MRI showed muscle involvement in the gluteus medius, gluteus maximus, posterior thigh and calf medial muscles. Muscle pathology suggested that “myopathy-like” changes and histological changes were not found in the cytoplasm Cavitation and immunohistochemical staining showed that there was no deletion of dysferlin protein. The result of western blot showed that calpain-3 94 000/60 000 in the muscular tissue was completely deleted and the diagnosis was calpainopathy. CONCLUSIONS: Distal myopathy contains a wide variety of diseases and calpainopathy can also be one of them. Muscle imaging can provide some clues for its identification, and the diagnosis depends on the detection of immunoblotting.