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线粒体病代表一个广泛的临床、病理和生化谱,有报告累及骨骼肌和眼肌、中枢和周围神经系统、肝脏、心脏、血管、视网膜和内分泌系统。作者报告3例成人进行性骨骼肌线粒体肌病,全部病例仅有的临床特征为近端肌的肌病。根据肌肉组化发现粗红纤维(ragged red fibers),电镜观察线粒体异常,以及排除了其他疾病而确诊,未发现线粒体DNA 染色体缺失。病例1:女,67岁。其母和一弟有长期双睑下垂史,患者10年来发生进行性双睑下垂,肢体无力,咽下困难,且偶有复视。体检示双侧眼睑下垂,水平和垂直方向的眼运动受限,肢体近端肌肉萎缩,腱反射减弱,但肌力基本正常。肌酸激酶,天门冬酸盐转氨酶,乳酸脱氢酶和醛缩酶均正常,肌也图示肌病型。病例2:男,80岁。骨盆带肌肌痛和进行
Mitochondrial disease represents a wide range of clinical, pathological and biochemical spectrum with reports involving the skeletal and ocular muscles, the central and peripheral nervous systems, the liver, heart, blood vessels, the retina, and the endocrine system. The authors report 3 adult progressive skeletal muscle myositis, the only clinical feature of all cases being myopathy of the proximal muscle. According to the findings of muscle tissue, ragged red fibers, mitochondrial abnormalities observed by electron microscopy, and the diagnosis of other diseases were excluded, and no mitochondrial DNA chromosome deletion was found. Case 1: Female, 67 years old. The mother and brother have a long history of double eyelid ptosis, patients with progressive bipolar ptosis 10 years, limb weakness, swallowing difficulties, and occasional diplopia. Physical examination showed ptosis of both sides, restricted horizontal and vertical eye movement, proximal atrophy of muscles, decreased tendon reflexes, but normal muscle strength. Creatine kinase, aspartate aminotransferase, lactate dehydrogenase and aldolase were normal muscle also showed myopathy. Case 2: Male, 80 years old. Pelvic muscle muscular pain and progress