Schwann H, Schneider G, Brugger P, Titze W, Klein G
Z Rheumatol. 1984 Jan-Feb;43(1):36-41.
The case of a 19-year-old female patient with myositis ossificans progressiva is reported. This disease is a rare hereditary disorder with a dominant autosomal genotype. The patient had typical ossifications of the humeral and dorsal muscles, as well as of those of the left thigh and upper arm, and also an ankylosis of the left hip. There were typical deformations of the cervical vertebrae and of the skeleton of the hands and feet. Laboratory tests showed alkaline phosphatase to be greatly increased. ECG revealed a bifascicular bundle-branch block, and a high-grade restrictive ventilation disorder was shown up by pulmonary function test. When the stability of the genetic material was investigated, DNA synthesis was found to be normal, DNA repair was slightly accelerated, and the sister chromatid exchange rate following stimulation with mitomycin C was higher than in controls.
报告了一名19岁进行性骨化性肌炎女性患者的病例。这种疾病是一种罕见的常染色体显性遗传疾病。该患者肱骨和背部肌肉以及左大腿和上臂肌肉有典型的骨化，左髋关节也有强直。颈椎以及手和脚的骨骼有典型畸形。实验室检查显示碱性磷酸酶大幅升高。心电图显示双分支束支传导阻滞，肺功能测试显示有重度限制性通气障碍。在研究遗传物质的稳定性时，发现DNA合成正常，DNA修复略有加速，丝裂霉素C刺激后的姐妹染色单体交换率高于对照组。
