Sengers R C, Trijbels J M, Bakkeren J A, Ruitenbeek W, Fischer J C, Janssen A J, Stadhouders A M, ter Laak H J
Eur J Pediatr. 1984 Jan;141(3):178-80. doi: 10.1007/BF00443221.
A girl was presented suffering from generalised weakness and cardiorespiratory insufficiency. She succumbed at the age of 5 months. Lactate levels were elevated in serum, cerebrospinal fluid and urine. Histopathological examination revealed a mitochondrial myopathy. In muscle tissue the cytochrome oxydase activity was strongly reduced. The content of cytochromes b and aa3 was very low. At autopsy a cardiomyopathy was found.
一名女童出现全身无力和心肺功能不全症状。她在5个月大时夭折。血清、脑脊液和尿液中的乳酸水平升高。组织病理学检查显示为线粒体肌病。肌肉组织中的细胞色素氧化酶活性大幅降低。细胞色素b和aa3的含量非常低。尸检发现有心肌病。
