摘要
本文报道了21例原发性线粒体肌病和线粒体脑肌病。临床表现可分为三种类型:以四肢骨骼肌受侵为主共18例,以眼外肌受侵为主共2例,为不完全型KSS(Kearns-Sayre Syndrome);以卒中样发作伴高乳酸血症为特征的1例,称为MELAS(mitochondrial encephalomyopathy withlactic acidemia and stroke-like episodes)。21例均进行肌组织活检,光镜及电镜观察。其中13例经生化方法测定线粒体呼吸速度和线粒体呼吸链酶复合体的活性。最后,对本组疾病的诊断、鉴别诊断和治疗进行了讨论。
Twenty-one cases of primary mitochondrial myopathy and encephalomyopathy are reported. Theirclinical manifestations can be separated into three groups: Syndromes showing predominantly skeletalmuscles affected (18 cases); Syndromes presenting with chronic progressive external ophthalmoplegia,also called incomplete type of Kearns-Sayre syndrome (KSS) (2 cases); Syndromes showing predominantly CNS affected, a typical case of mitochondrial encephalomyopthy with lactic acidemia andstroke-like episodes (MELAS) (1 case). Muscle biopsies were performed in all the cases. The diagnosiswas confirmed by morphological studies, including frozen sections with histochemical stain and electronmicroscopy and biochemical determinations, including the detection of mitochondrial respitatory rateand the activities of enzyme complexes Ⅰ-Ⅳ in the respiratory chain of mitochondria isolated fromfresh muscle specimens.
出处
《北京医科大学学报》
CSCD
1991年第3期195-198,共4页
Journal of Peking University(Health Sciences)
基金
国家自然科学基金
关键词
线粒体肌病
线粒体脑肌病
诊断
Mitochondrial myopathy
Mitochondrial encephalomyopathy
Myopathy
Respiratory chain
Enzyme complex
