Department of Cardiology, 251 Air Force General Hospital, Athens, Greece.
Hellenic J Cardiol. 2013 Jul-Aug;54(4):326-30.
Lamin A/C is a major constituent of the nuclear lamina, the proteinaceous meshwork underlying the inner nuclear membrane. Laminopathies are a group of diseases with heterogeneous clinical presentation. Lamin A/C mutations are a well-established cause of dilated cardiomyopathy. In our case, a novel mutation of lamin A/C presented in the typical form of cardiolaminopathy with ventricular tachycardia and mild myocardial dysfunction in an apparently healthy, middle-aged individual.
核纤层蛋白 A/C 是核纤层的主要组成部分，核纤层是位于内核膜下的蛋白质网格。核纤层病是一组具有不同临床表现的疾病。核纤层蛋白 A/C 突变是扩张型心肌病的一个公认病因。在我们的病例中，一种新型的核纤层蛋白 A/C 突变以典型的心肌核纤层病形式出现，表现为中年健康个体出现室性心动过速和轻度心肌功能障碍。
