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杜兴氏肌营养不良患者及携带者血清中的总肌酸激酶和免疫反应性肌酸激酶

Total and immunologically reacting muscle enolase in blood serum of Duchenne muscular dystrophy patients and carriers.

作者信息

Goldberg D M, Rider C C, Taylor C B

出版信息

Clin Chim Acta. 1976 Aug 16;71(1):89-93. doi: 10.1016/0009-8981(76)90279-5.

Abstract

All of 12 patients with Duchenne muscular dystrophy manifested raised activity of serum enolase but only 10 showed elevation of immunologically reacting muscle enolase (IRM-enolase). Total enolase was raised in 4 of 12 mothers and one of 8 sisters of the affected subjects but IRM-enolase was elevated in only one mother. These results are consistent with the view that enolase, unlike creatine phosphokinase which showed much more pronounced increase in the serum of patients and their female relatives, is associated with a structural component of the muscle cell distinct from the presumed site of molecular abnormality in this disease.

摘要

12例杜氏肌营养不良患者的血清烯醇化酶活性均升高,但只有10例表现出免疫反应性肌肉烯醇化酶(IRM-烯醇化酶)升高。在12例患者的母亲中有4例、8例姐妹中有1例的总烯醇化酶升高,但只有1位母亲的IRM-烯醇化酶升高。这些结果与以下观点一致,即烯醇化酶与肌酸磷酸激酶不同,肌酸磷酸激酶在患者及其女性亲属的血清中升高更为明显,烯醇化酶与肌肉细胞的一种结构成分有关,该结构成分与这种疾病中推测的分子异常位点不同。

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