荷兰的肢带型肌营养不良症：半数家庭中发现基因缺陷。

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.

作者信息

van der Kooi A J, Frankhuizen W S, Barth P G, Howeler C J, Padberg G W, Spaans F, Wintzen A R, Wokke J H J, van Ommen G-J B, de Visser M, Bakker E, Ginjaar H B

机构信息

Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

出版信息

Neurology. 2007 Jun 12;68(24):2125-8. doi: 10.1212/01.wnl.0000264853.40735.3b.

DOI:10.1212/01.wnl.0000264853.40735.3b

PMID:17562833

Abstract

Pheno- and genotype correlation is attempted in a Dutch cross-sectional study on limb- girdle muscular dystrophy. Sarcoglycans, caveolin-3, calpain-3, and dysferlin were analyzed on muscle tissue. Mutation analysis of the calpain-3, caveolin-3, and fukutin-related protein gene was executed in successive order for all samples. In 51% of all families a classifying diagnosis was made. Several new mutations in LGMD2A, B, and C patients have been found in this population.

摘要

在一项关于肢带型肌营养不良的荷兰横断面研究中，尝试进行表型与基因型的相关性分析。对肌肉组织中的肌聚糖、小窝蛋白-3、钙蛋白酶-3和dysferlin进行了分析。对所有样本依次进行钙蛋白酶-3、小窝蛋白-3和福库汀相关蛋白基因的突变分析。在所有家庭中，51%做出了分类诊断。在该人群中发现了LGMD2A、B和C型患者的几种新突变。