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[不同形式遗传性神经肌肉疾病患者红细胞中阴离子代谢动力学的研究]

[Study of the kinetics of anion metabolism in the erythrocytes of patients with various forms of hereditary neuromuscular diseases].

作者信息

Sitnikov V F, Khrennikov V Iu, Sidorov E P

出版信息

Zh Nevropatol Psikhiatr Im S S Korsakova. 1987;87(11):1617-20.

PMID:3434056
Abstract

The authors have shown an increase in the rate of the anion transport in erythrocytic membranes in patients with hereditary neuromuscular diseases, as well as in probable heterozygotic carriers of Duchenne's progressive muscular dystrophy. It is suggested that the kinetic parameters of chlorine-bicarbonate exchange be used for the early diagnosis and identification of the heterozygotic carriership of Duchenne's myodystrophy gene.

摘要

作者发现,遗传性神经肌肉疾病患者以及杜氏进行性肌营养不良症可能的杂合子携带者的红细胞膜中阴离子转运速率有所增加。有人提出,氯-碳酸氢盐交换的动力学参数可用于杜氏肌营养不良症基因杂合子携带者的早期诊断和识别。

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Decreased water permeability of erythrocyte membranes in patients with Duchenne muscular dystrophy.
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