Ionasescu V
Am J Med Genet. 1983 May;15(1):103-12. doi: 10.1002/ajmg.1320150114.
The author reports on four patients (one male, three females) from the same kindred with a newly recognized autosomal recessive condition involving striated and smooth muscle that has been designated oculogastrointestinal muscular dystrophy. It is characterized by ptosis, ophthalmoplegia, and progressive intestinal pseudo-obstruction leading to malnutrition and death before 30 y. Autopsy studies in two cases showed a severe primary myopathy of smooth muscles of the stomach and intestine with intact myenteric plexus and vagus nerves. The proposita notably had myopathic changes of striated muscles but also involvement of the peripheral nerves and central nervous system characterized by demyelinating and axonal neuropathy and focal spongiform degeneration of the posterior columns.
作者报告了来自同一家族的4名患者（1名男性，3名女性），他们患有一种新确认的常染色体隐性疾病，累及横纹肌和平滑肌，被命名为眼胃肠型肌营养不良。其特征为上睑下垂、眼肌麻痹以及进行性肠道假性梗阻，可导致营养不良并在30岁前死亡。两例尸检研究显示，胃和肠道平滑肌存在严重的原发性肌病，肌间神经丛和迷走神经完好无损。先证者显著存在横纹肌的肌病性改变，但也累及周围神经和中枢神经系统，表现为脱髓鞘和轴索性神经病变以及后索局灶性海绵状变性。
