Byrne E, Blumbergs P C, Hallpike J F, Mukherjee T M
Aust N Z J Med. 1983 Aug;13(4):353-8. doi: 10.1111/j.1445-5994.1983.tb04480.x.
Five patients with mitochondrial myopathy are discussed. Two presented with progressive external ophthalmoplegia (CPEO), one with CPEO and retinitis pigmentosa, and two with Kearns-Sayre syndrome. Ragged red fibres and intra-mitochondrial paracrystalline inclusions were found in each case. The clinical heterogeneity of the mitochondrial myopathy syndrome in the presence of identical pathological changes in skeletal muscle is emphasised.
讨论了5例线粒体肌病患者。2例表现为进行性眼外肌麻痹（CPEO），1例表现为CPEO合并色素性视网膜炎，2例表现为卡恩斯-塞尔综合征。在每例患者中均发现了破碎红纤维和线粒体内副结晶包涵体。强调了在骨骼肌存在相同病理变化的情况下线粒体肌病综合征的临床异质性。
