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杜氏肌营养不良症亚临床状态和携带者状态的检测与遗传咨询

Detection and genetic counselling of subclinical and carrier states in Duchenne muscular dystrophy.

作者信息

Das P K, Sen S K

出版信息

Eur Neurol. 1979;18(2):91-5. doi: 10.1159/000115060.

Abstract

23 potential carriers of Duchenne muscular dystrophy (DMD) and 20 of their apparently healthy brothers were studied for evidence of any subclinical form of the disease. The results of the study confirmed that it was possible to confirm the diagnosis of a 'high genetic risk' carrier by integrating the results of clinical studies, estimation of basal serum CPK, steroid-CPK test, EMG and ECG observations. Similarly, the subclinical state of DMD could also be detected with certainty in 10% of the brothers of DMD carriers. The results may be applied for genetic counselling to bring down the incidence of the disease in the community.

摘要

对23名杜氏肌营养不良症(DMD)潜在携带者及其20名表面健康的兄弟进行了研究,以寻找该病任何亚临床形式的证据。研究结果证实,通过整合临床研究结果、基础血清肌酸磷酸激酶(CPK)估计值、类固醇 - CPK试验、肌电图(EMG)和心电图(ECG)观察结果,可以确诊“高遗传风险”携带者。同样,在DMD携带者的兄弟中,也能确定检测出10%的DMD亚临床状态。这些结果可应用于遗传咨询,以降低社区中该病的发病率。

相似文献

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[Detection, genetic counseling and phenotype prevention of Duchenne muscular dystrophy].
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Carrier detection and genetic counselling in Duchenne dystrophy.杜氏肌营养不良症的携带者检测与遗传咨询
Dev Med Child Neurol. 1975 Jun;17(3):352-6. doi: 10.1111/j.1469-8749.1975.tb04674.x.

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