Kamieniecka Z
Acta Neurol Scand. 1977 Jan;55(1):57-75. doi: 10.1111/j.1600-0404.1977.tb05627.x.
Among 135 consecutive patients with myopathy, 17 showed abnormalities in the mitochondria of muscle. In eight of these patients the abnormalities were demonstrated by electron microscopy. In all patients Gömöri trichome stain showed red masses at the sites of the mitochondria and diformazan deposits when stained for mitochondrial enzymes. The patients could be divided into three groups: i) Nine patients had weakness of the extra-ocular muscles, either alone or associated with weakness of skeletal muscles and non-muscular signs. One patient with the oculo-cranio-somatic syndrome had two affected sibs. ii) Four patients had a facioscapulohumeral distribution of weakness. Three (two sisters and a maternal aunt) were in the same family, and the fourth patient had an affected sister. iii) Four patients were clinically heterogeneous. When mitochondrial alterations were the only pathological change in many fibers in a muscle, they were most often associated with an ocular or oculo-cranio-somatic syndrome. Electromyography showed changes indicating or suggestive of myopathy in all but one patient. There was a discrepancy between severe changes in the EMG and nearly normal fibers by hematoxylin and eosin and van Gieson stains. Serum creatine kinase was increased in 10 of 17 patients, in most 2-4 times the upper limit of normal.
在135例连续性肌病患者中，17例显示肌肉线粒体异常。其中8例患者的异常通过电子显微镜得以证实。所有患者的Gömöri三色染色显示线粒体部位有红色团块，在线粒体酶染色时可见二硝基四氮唑蓝沉淀。这些患者可分为三组：i）9例患者有眼外肌无力，可为单独出现或伴有骨骼肌无力及非肌肉体征。1例患有眼-颅-躯体综合征的患者有2个患病同胞。ii）4例患者的肌无力呈面肩肱型分布。其中3例（2姐妹和1位姨母）来自同一家族，第4例患者有1个患病姐妹。iii）4例患者临床表现各异。当线粒体改变是肌肉中许多纤维唯一的病理变化时，它们最常与眼肌或眼-颅-躯体综合征相关。除1例患者外，所有患者的肌电图均显示有提示或表明肌病的改变。肌电图有严重改变，但苏木精-伊红染色和范吉森染色显示纤维几乎正常，两者之间存在差异。17例患者中有10例血清肌酸激酶升高，多数为正常上限的2至4倍。
