杜氏肌营养不良症的携带者检测

Carrier detection in Duchenne muscular dystropy.

作者信息

Tagliavini J, Ottonello S, Grassi E, Marchini C, Rossi G L, Lucci B, Parma M, Reggiani R

出版信息

Neurology. 1979 Oct;29(10):1423-5. doi: 10.1212/wnl.29.10.1423.

DOI:10.1212/wnl.29.10.1423

Abstract

We investigated the number of echinocytes, the serum hemopexin level, and spectrin band II phosphorylation in the blood of normal subjects, patients, and carriers of Duchenne dystrophy. The patients and carriers exhibited quantitatively significant differences with respect to controls.

摘要

我们研究了正常受试者、杜氏肌营养不良症患者及携带者血液中棘红细胞数量、血清血红素结合蛋白水平和血影蛋白带II磷酸化情况。患者及携带者与对照组相比表现出数量上的显著差异。