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X连锁肌营养不良患者亲属的肌酸磷酸激酶(CPK)活性:一项巴西的研究。

Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study.

作者信息

Zatz M, Frota-Pessoa O, Levy J A, Peres C A

出版信息

J Genet Hum. 1976 Jun;24(2):153-68.

PMID:965952
Abstract

Serum CPK was measured in 135 families with Duchenne muscular dystrophy (DMD) and 19 with the Becker type (BMD). Increased CPK was found in 62% of the carriers of DMD and 62.5% of the BMD. Two certain carries of DMD and one of their daughters showed clinical signs of myopathy. Three studied DMD pregnant carriers suggest that there is a decrease in CPK levels around the 4th-5th months of gestation. In genetic counselling of suspected carriers the CPK activity of their normal daughters should always be considered. Our data suggest strongly that CPK activity decreases in carriers with increasing age.

摘要

对135个患有杜氏肌营养不良症(DMD)的家庭和19个患有贝克型肌营养不良症(BMD)的家庭进行了血清肌酸磷酸激酶(CPK)检测。在62%的DMD携带者和62.5%的BMD携带者中发现CPK升高。两名确诊的DMD携带者及其一个女儿表现出肌病的临床症状。对三名接受研究的DMD怀孕携带者的研究表明,在妊娠第4至5个月左右CPK水平会下降。在对疑似携带者进行遗传咨询时,应始终考虑其正常女儿的CPK活性。我们的数据强烈表明,携带者的CPK活性会随着年龄增长而降低。

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