Hopkins L C, Rosing H S
Adv Neurol. 1986;43:105-17.
The CNS diseases that are associated with mitochondrial myopathy have been reviewed in this chapter. The disorders causing myoclonus have been compared to those in which myoclonus has been reported. Both groups have been associated with lactate and pyruvate accumulation, and both have a wide spectrum of clinical and pathologic findings. Deficiency of components of the respiratory chain has been offered as an explanation for the mitochondrial accumulation in the muscles of these patients. Skeletal muscle respiratory-chain components may be deficient, and there is experimental evidence that indicates that mitochondria will proliferate in muscle and other tissues when vital nutrients are withheld. There are two features of these patients that separate them from other patients with myoclonus. The first is the elevation of serum lactate and pyruvate due to deficient oxidative phosphorylation. The second is a pedigree that indicates maternal inheritance.
本章已对与线粒体肌病相关的中枢神经系统疾病进行了综述。已将导致肌阵挛的疾病与报告有肌阵挛的疾病进行了比较。这两组疾病均与乳酸和丙酮酸积累有关，且都有广泛的临床和病理表现。呼吸链成分缺乏被认为是这些患者肌肉中线粒体积累的一个解释。骨骼肌呼吸链成分可能缺乏，并且有实验证据表明，当重要营养素缺乏时，线粒体将在肌肉和其他组织中增殖。这些患者有两个特征将他们与其他肌阵挛患者区分开来。第一个特征是由于氧化磷酸化不足导致血清乳酸和丙酮酸升高。第二个特征是显示母系遗传的谱系。
