Utrophin correlates with disease severity in Duchenne muscular dystrophy

被引：2

作者：

Guiraud, Simon ^{[1
,2
]}

Davies, Kay ^{[3
]}

机构：

[1] Paris Saclay Univ, END ICAP Lab, UVSQ, INSERM,UMR1179, F-78000 Versailles, Paris, France

[2] SQY Therapeut, F-78180 Montigny, France

[3] Univ Oxford, MDUK Oxford Neuromuscular Ctr, Dept Physiol Anat & Genet, Oxford OX1 3PT, England

来源：

MED | 2023年 / 4卷 / 04期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/j.medj.2023.03.005

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

This month in Med, the description of an unusually severely affected DMD patient suffering from a large deletion in the dystrophin gene confirms that absence of utrophin worsens the dystrophy and supports the concept that utrophin upregulation ameliorates the pathology. This study may guide the development of dystrophin-based gene therapies.

引用

页码：220 / 222

页数：3

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