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年龄对杜氏肌营养不良症检出率的影响。

Effect of age on the detection rate in Duchenne muscular dystrophy.

作者信息

Zatz M, Otto P A

出版信息

J Neurol Sci. 1980 Sep;47(3):407-10. doi: 10.1016/0022-510x(80)90093-3.

Abstract

In order to estimate SCK (serum creatine kinase) variability with age in carriers of Duchenne dystrophy (DMD), repeated SCK determinations in 10 obligate and 19 possible carriers were performed over a period of several years. Although there was some variation in some individuals, the differences in SCK means and risks of heterozygosity were not statistically significant between the first and second determinations. The present investigation indicates that the relation between SCK and age in carriers of the Duchenne gene is still controversial.

摘要

为了评估杜氏肌营养不良症(DMD)携带者血清肌酸激酶(SCK)随年龄的变化情况,在数年时间里对10名确诊携带者和19名可能的携带者进行了多次SCK测定。尽管部分个体存在一定差异,但首次和第二次测定之间SCK均值及杂合子风险的差异并无统计学意义。本研究表明,杜氏基因携带者中SCK与年龄的关系仍存在争议。

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