Warter J M, Marescaux C, Coquillat G, Walter P, Micheletti G, Rohmer F
J Neurol Sci. 1981 Jan;49(1):135-51. doi: 10.1016/0022-510x(81)90195-7.
Three of 11 children, offspring of a consanguineous marriage, presented a progressive myopathy and seizures, associated with symptoms suggesting both central and peripheral nervous system involvement. The ultrastructural muscular lesions were not specific. The association of severe impairment of muscle tissue and of central nervous system is rare, being described in centronuclear myopathy, cerebromuscular dystrophy, Kearns-Sayre syndrome and in a few isolated cases. Clinically only these isolated observations and especially the Kearns-Sayre syndrome demonstrate analogies to our observations. These data lead us to the discussion of the specificity of ultrastructural lesions, especially mitochondrial abnormalities. Some authors consider these abnormalities to be the biochemical hallmark for ophthalmoplegia plus, whereas for others, especially Drachman, they are an inconstant and nonspecific finding, merely the consequence and not the cause of this disease. These observations argue for the relationship between muscular pathology and nervous system dysfunction.
11名近亲结婚后代中的3名儿童出现进行性肌病和癫痫发作，伴有提示中枢和外周神经系统受累的症状。超微结构下的肌肉病变并无特异性。肌肉组织和中枢神经系统严重受损同时出现的情况较为罕见，见于中央核性肌病、脑肌营养不良、卡恩斯-塞尔综合征以及少数个别病例。临床上，只有这些个别观察结果，尤其是卡恩斯-塞尔综合征与我们的观察结果有相似之处。这些数据促使我们讨论超微结构病变的特异性，尤其是线粒体异常。一些作者认为这些异常是眼肌麻痹加征的生化标志，而对另一些作者，尤其是德拉克曼来说，它们是一种不恒定且非特异性的发现，仅仅是这种疾病的结果而非病因。这些观察结果支持了肌肉病理学与神经系统功能障碍之间的关系。
