垃圾中的瑰宝：剖析面肩肱型肌营养不良症的分子发病机制
Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy.
作者信息
Dmitriev Petr, Lipinski Marc, Vassetzky Yegor S
机构信息
Université Paris-Sud 11 CNRS UMR 8126, Interactions moléculaires et cancer, Institut de Cancérologie Gustave-Roussy, F-94805 Villejuif cedex, France.
出版信息
Neuromuscul Disord. 2009 Jan;19(1):17-20. doi: 10.1016/j.nmd.2008.09.004. Epub 2008 Oct 29.
Despite the discovery of the deletion on the long arm of the chromosome 4 specific for facioscapulohumeral muscular dystrophy (FSHD), the identity of the gene responsible for the disease still remains a mystery. In this review we focus on two genes, DUX4 and DUX4c, encoded by the D4Z4 repeats present in the 4q35 locus, which is affected in the disease.
尽管已发现4号染色体长臂上的缺失是面肩肱型肌营养不良症（FSHD）所特有的，但导致该疾病的基因身份仍是个谜。在本综述中，我们重点关注由4q35位点存在的D4Z4重复序列编码的两个基因，即DUX4和DUX4c，该位点在该疾病中受到影响。
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