线粒体是人体最重要的产生能量的细胞器,当它出现结构功能紊乱时,将导致能量代谢紊乱,临床上出现一系列综合征,如病变以侵犯骨骼肌为主,称为线粒体肌病,如果同时累及中枢神经系统,则称为线粒体脑肌病,现将已确诊的1例原发性线粒体脑肌病报道如下。 Mitochondria are the most important energy-producing organelles in the human body. When they exhibit structural dysfunction, they lead to energy metabolism disorders. Clinically, a series of syndromes occur. For example, the lesions mainly involve the invasion of skeletal muscle, which is called mitochondrial myopathy. Involved in the central nervous system, known as mitochondrial encephalomyopathy, now confirmed one case of primary mitochondrial encephalomyopathy reported below.