Morris G E, Manilal S
MRIC Biochemistry Group, NE Wales Institute, Wrexham, UK.
Hum Mol Genet. 1999;8(10):1847-51. doi: 10.1093/hmg/8.10.1847.
Emery-Dreifuss muscular dystrophy has some remarkably specific features, with only cardiac and skeletal tissues being affected. Equally remarkably, the disease is caused by mutations in widely expressed genes for the nuclear membrane/lamina proteins, emerin and lamin A/C. How do mutations in proteins at the heart of the cell lead to stiff joints and sudden heart failure? This and related questions are the subject of this review.
埃默里-德赖富斯肌营养不良症有一些非常特殊的特征，仅心脏和骨骼肌组织会受到影响。同样值得注意的是，这种疾病是由广泛表达的核膜/核纤层蛋白emerin和核纤层蛋白A/C的基因突变引起的。细胞核心部位蛋白质的突变是如何导致关节僵硬和突发性心力衰竭的呢？本文将对这一问题及相关问题进行综述。
