自1962[1]年发现世界上首例线粒体疾病患者以来,人类已经发现了很多种由于线粒体功能障碍而导致的疾病。近十年来已经明确了几个与耳聋有关的线粒体突变。由于人类线粒体的唯一功能是通过氧化磷酸化参与人体化学能量的产生,因此线粒体突变干扰能量的产生进而导致全身神经肌肉功 Since the first case of mitochondrial disease in the world was discovered in 1962 [1], humans have found a variety of diseases due to mitochondrial dysfunction. In the past decade, several mitochondrial mutations associated with deafness have been identified. Since the only function of human mitochondria is to participate in the production of chemical energy of the body through oxidative phosphorylation, the mitochondrial mutation interferes with the production of energy which in turn leads to whole body neuromuscular function