【摘要】 本文报道了原发性线粒体肌病与脑肌病53例,均经肌活检组织化学染色,超微结构检查及生化检测线粒体呼吸链酶复合体Ⅰ—Ⅳ的活性证实。临床类型包括线粒体肌病44例,KSS及CPEO8例,MELAS型1例。实验室检查包括神经电生理,血清肌酶谱,血乳酸、丙酮酸最小运动量试验.肌活检形态学和生化检测,以及线粒体形态计量分析。并对本组疾病的临床特点,各种检查的诊断价值及治疗进行了讨论。更多还原

【Abstract】 Fifty-three cases of primary mitochondri-al myopathy and encephalomyopathy were reported in this article. The diagnosis was confirmed by the histochemical staining, the ultra-structural examinations and the biochemical determinations of the enzyme complexes Ⅰ - Ⅳ activities in rnitochondrial respiratory chains, The clinical manifestations could be divided into 3 groups: rnitochondrial myopathy (44 cases) ,KSS and CPEO (8 cases), and MEL AS (1 case). The laboratory studies included neu-roelectrophysiological examinations > the serum muscle enzymes, the minimum exercise test of serum lactate and pyruvate, the muscle biopsies for the morphological and biochemical determinations and for the morphometric analysis of mitochondria. Finally* the clinical characteristics of the diseases, the diagnostic value of laboratory studies and the treatment were discussed.更多还原