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两例良性X连锁肌病(麦克劳德综合征)的肌营养不良蛋白表达及基因型分析

Dystrophin expression and genotypic analysis of two cases of benign X linked myopathy (McLeod's syndrome).

作者信息

Carter N D, Morgan J E, Monaco A P, Schwartz M S, Jeffery S

机构信息

Department of Child Health, St George's Hospital Medical School, London.

出版信息

J Med Genet. 1990 Jun;27(6):345-7. doi: 10.1136/jmg.27.6.345.

Abstract

DNA extraction and Southern blot analysis of two cases of McLeod's syndrome showed restriction fragments identical to normal controls using probes from the Xp21 (1-2) region, in contrast to striking deletions found in two other McLeod phenotypes studied in the USA. The McLeod locus is adjacent to Duchenne muscular dystrophy (DMD) and dystrophin immunocytochemistry showed that expression is normal in muscle from the two McLeod cases in spite of the mild DMD-like myopathy.

摘要

对两例麦克劳德综合征患者进行的DNA提取和Southern印迹分析显示,使用来自Xp21(1-2)区域的探针,其限制性片段与正常对照相同,这与在美国研究的另外两种麦克劳德表型中发现的明显缺失形成对比。麦克劳德基因座与杜氏肌营养不良症(DMD)相邻,抗肌萎缩蛋白免疫细胞化学显示,尽管存在轻度的DMD样肌病,但两例麦克劳德综合征患者肌肉中的表达正常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c72/1017128/b46c9ed0ff2e/jmedgene00044-0001-a.jpg

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