Mousson B, Collombet J M, Dumoulin R, Carrier H, Flocard F, Bouzidi M, Godinot C, Maire I, Mathieu M, Quard S
Laboratoire de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France.
Acta Neurol Scand. 1995 Jun;91(6):488-93. doi: 10.1111/j.1600-0404.1995.tb00451.x.
A 29-year-old man with a progressive exertional muscle intolerance since childhood was referred for incremental exercise test on a bicycle ergometer. The response pattern suggested a mitochondrial myopathy: that is, a greatly reduced maximum oxygen consumption with appropriate heart rate increase and an anaerobic threshold point reached early. The metabolic investigation in plasma revealed an abnormal oxidoreduction status (hyperlactataemia and high lactate/pyruvate ratio) at rest and after a carbohydrate rich meal. The histochemical examination of a muscle biopsy revealed red granular deposits under the sarcolemma for all type 1 fibers. Oxypolarographic and enzymological studies of the mitochondrial respiratory chain in both isolated mitochondria and muscle homogenate demonstrated a marked deficiency of ubiquinol cytochrome c reductase (complex III) activity.
一名自童年起就患有进行性运动性肌肉不耐受的29岁男性被转诊进行自行车测力计递增运动试验。反应模式提示线粒体肌病：即最大耗氧量大幅降低，心率适当增加，且厌氧阈值点出现较早。血浆代谢研究显示，静息时以及富含碳水化合物的餐后氧化还原状态异常（高乳酸血症和高乳酸/丙酮酸比值）。肌肉活检的组织化学检查显示，所有1型纤维的肌膜下均有红色颗粒沉积。对分离的线粒体和肌肉匀浆中线粒体呼吸链的氧极谱和酶学研究表明，泛醇细胞色素c还原酶（复合体III）活性明显缺乏。
