Riggs J E, Schochet S S, Goldfarb G R, Price R A
Department of Neurology, West Virginia University School of Medicine, Morgantown 26506.
J Child Neurol. 1989 Jul;4(3):195-7. doi: 10.1177/088307388900400308.
Progressive external ophthalmoplegia is associated with an increasingly heterogeneous group of neuromuscular disorders. We describe a 16-year-old girl with delayed motor milestones and onset of progressive external ophthalmoplegia at age 3 years and proximal muscle weakness at age 10 years. Muscle biopsy specimen demonstrated type I myofiber predominance and type II myofiber atrophy. Although the pathological features of this congenital myopathy are quite nonspecific, the case further illustrates the pathogenetic heterogeneity of the progressive external ophthalmoplegia phenotype.
进行性眼外肌麻痹与越来越多的异质性神经肌肉疾病相关。我们描述了一名16岁女孩，其运动发育里程碑延迟，3岁时出现进行性眼外肌麻痹，10岁时出现近端肌无力。肌肉活检标本显示I型肌纤维占优势和II型肌纤维萎缩。尽管这种先天性肌病的病理特征非常不特异，但该病例进一步说明了进行性眼外肌麻痹表型的发病机制异质性。
