Yoshioka M
Clin Genet. 1981 Jul;20(1):6-12. doi: 10.1111/j.1399-0004.1981.tb01799.x.
Three manifesting carriers of Duchenne muscular dystrophy were examined clinically and histologically. All had muscle weakness in the upper and lower limbs without facial muscle involvement, onset being at the ages of 35, 19 and 25 years, respectively. Pseudohypertrophy of calves was evident in all cases. Biochemical, electrocardiographic and histological observations revealed the presence of myopathy in all cases. Sex chromatin patterns were normal. Compared with the manifesting carriers previously reported by others, at least one case showed more severe histological findings which were typical of the advanced stage of Duchenne muscular dystrophy. The cardiac involvement in three cases was moderate. A possible involvement of other factors besides Lyonization influencing the development of myopathy in the carriers is suggested.
对三名杜兴氏肌营养不良症的显性携带者进行了临床和组织学检查。三人都有上下肢肌肉无力，但面部肌肉未受累，发病年龄分别为35岁、19岁和25岁。所有病例小腿均有明显的假性肥大。生化、心电图和组织学观察表明所有病例均存在肌病。性染色质模式正常。与其他人先前报道的显性携带者相比，至少有一例显示出更严重的组织学表现，这是杜兴氏肌营养不良症晚期的典型表现。三例患者的心脏受累程度为中度。提示除了莱昂化之外，可能还有其他因素影响携带者肌病的发展。
