Kenton Alexander B, Sanchez Ximena, Coveler Karen J, Makar Kimberly A, Jimenez Shinawe, Ichida Fukiko, Murphy Ross T, Elliott Perry M, McKenna William, Bowles Neil E, Towbin Jeffrey A, Bowles Karla R
Department of Pediatrics, Section of Neonatology, Baylor College of Medicine, Houston, TX, USA.
Mol Genet Metab. 2004 Jun;82(2):162-6. doi: 10.1016/j.ymgme.2004.02.009.
Isolated left ventricular noncompaction (LVNC) is a form of cardiomyopathy that most commonly presents in infancy with a hypertrophic and dilated left ventricle characterized by deep trabeculations and intertrabecular recesses. Our goal was to determine the frequency of mutations in G4.5, alpha-dystrobrevin, and FK Binding protein-12 in isolated LVNC patients. No mutations were identified in 47 of the 48 patients studied, while a splice site acceptor site mutation of intron 10 of G4.5 was identified in one patient, resulting in the deletion of exon 10 from the mRNA.
孤立性左心室心肌致密化不全（LVNC）是一种心肌病，最常见于婴儿期，表现为肥厚和扩张的左心室，其特征为深陷的肌小梁和小梁间隐窝。我们的目标是确定孤立性LVNC患者中G4.5、α-肌营养不良蛋白和FK结合蛋白-12的突变频率。在研究的48例患者中，47例未发现突变，而在1例患者中发现了G4.5第10内含子的剪接受体位点突变，导致mRNA中外显子10缺失。
