Single section Western blot - Improving the molecular diagnosis of the muscular dystrophies

被引：74

作者：

Cooper, ST

Lo, HP

North, KN

机构：

[1] Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, Australia

[2] Univ Sydney, Dept Paediat & Child Hlth, Sydney, NSW 2006, Australia

来源：

NEUROLOGY | 2003年 / 61卷 / 01期

关键词：

D O I：

10.1212/01.WNL.0000069460.53438.38

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Single section Western blot (SSWB) is an improved methodology for molecular diagnosis of the muscular dystrophies, requiring only a single 8-mum muscle biopsy cryosection for the simultaneous analysis of multiple disease candidates. The authors demonstrate that SSWB can be used for diagnosis of dystrophinopathies, to identify haploinsufficiency in autosomal dominant laminopathy, and as a tool to distinguish between primary and secondary immunohistochemical abnormalities in limb-girdle muscular dystrophy type 2B.

引用

页码：93 / 97

页数：5

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