摘要
目的探讨家族性慢性进行性眼外肌瘫痪(CPEO)型线粒体肌病的临床、遗传和病理特点。方法回顾性分析CPEO型线粒体肌病3个家系21例患者的临床表现、家系调查及5例肌活检病理学资料。结果患者临床均表现为眼睑下垂和眼球运动障碍,伴或不伴有肌无力。1家系符合常染色体显性遗传规律,另2个家系符合母系遗传规律。病理改变:光镜下为破碎红纤维(RRFs)和细胞色素C氧化酶(COX)缺失纤维;电镜为肌膜下、肌原纤维间线粒体数量增多,嵴内可见电子致密颗粒或晶格样包涵体。结论3个家系及其亲子代间临床与病理表现相似,提示不同遗传方式所致CPEO型线粒体肌病临床表现是相同的。
Objective To investigate the clinical, genetic and pathological features of familial chronic progressive external ophthalmoplegia （ CPEO ） type of mitochondrial myopathy. Methods Clinical manifestations, family histories and pathological findings of 21 patients with CPEO type of mitochondrial myopathy from 3 families constellations were analyzed retrospectively. Results All the patients had ptosis and movement disorder of eyeball, with or without myasthenia. An autosomal dominant pattern of transmission was deduced from one family and a maternal transmission appeared most likely in the other two families. The striking and common pathologic findings were presence of ragged red fibers and cytochrome C oxidase （COX） deficiency fibers under microscope. Uhrastructural alterations included subsarcolemmal accumulation of mitoehondria, increase of mitochondria with abnormal shape, disarrangement of cristae and paracrystaline inclusion bodies. Conclusions The clinical and pathological features between generations and families seem to be similar. It is suggested that different genetic mode of CPEO may lead to similar clinical and pathological features.
出处
《临床神经病学杂志》
CAS
北大核心
2005年第6期406-408,共3页
Journal of Clinical Neurology
基金
山东省自然科学基金资助项目(Y2002C34)
关键词
线粒体肌病
临床表现
遗传方式
病理
mitoehondrial myopathy
clinical manifestation
genetic mode
pathology
