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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 extraocular muscle paralysis (CPEO) mitochondrial myopathy. Methods Retrospective analysis of 21 cases of CPEO mitochondrial myopathy three families of clinical manifestations, pedigree investigation and 5 cases of biopsy pathology data. Results All patients presented with ptosis and ophthalmoplegia clinically with or without myasthenia gravis. 1 family line with autosomal dominant inheritance, the other two families line maternal genetic law. Pathological changes: under the light microscope broken fibers (RRFs) and cytochrome C oxidase (COX) missing fibers; electron microscopy submuscle, myofibrils increased the number of mitochondria, crest visible electron dense particles or lattice-like inclusions body. Conclusions The clinical and pathological findings among 3 pedigrees and their offspring are similar, suggesting that the clinical manifestations of CPEO-type mitochondrial myopathy are the same for different genetic modes.