家族性层粘连蛋白 A/C 心肌病的核膜超微结构病理学。
Ultrastructural pathology of the nuclear envelope in familial lamin A/C cardiomyopathy.
机构信息
Department of Pathology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
出版信息
Cardiovasc Pathol. 2010 Jul-Aug;19(4):e135-6. doi: 10.1016/j.carpath.2009.03.001. Epub 2009 Apr 16.
The LMNA gene encodes lamins A and C, two structural proteins of the nuclear lamina, a part of the nuclear envelope. LMNA gene mutations may cause familial cardiomyopathy. In this article, we describe an electron microscopic image of an endomyocardial biopsy specimen of a subject with familial cardiomyopathy with early onset cardiac fibrosis due to a deletion in LMNA, showing structural damage of the nuclear envelope.
lamin A 和 C 的编码基因，核纤层的两种结构蛋白，是核膜的一部分。LMNA 基因突变可能导致家族性心肌病。本文描述了一例因 LMNA 缺失导致早发性心脏纤维化的家族性心肌病患者的心内膜心肌活检标本的电镜图像，显示核膜的结构损伤。
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