期刊
JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
卷 29, 期 6-8, 页码 239-246出版社
SPRINGER
DOI: 10.1007/s10974-009-9174-0
关键词
Hypertrophic cardiomyopathy; Human heart; Myosin-binding protein C; Contractility; In vitro motility; Phosphorylation
类别
资金
- British Heart Foundation [FS/03109/16314, RG/02010, PG/07/067, FS/03/116]
- MRC [G0001112] Funding Source: UKRI
- Medical Research Council [G0001112] Funding Source: researchfish
Many of the links between the genotype and phenotype in hypertrophic cardiomyopathy remain unexplained. In this unique longitudinal study we have investigated a patient with classical clinical phenotypic features of hypertrophic obstructive cardiomyopathy, with a known mutation in MYBPC3, the most commonly affected gene in this disease. By collecting cardiac tissue from the patient at the time of surgical myectomy for relief of left ventricular outflow tract obstruction, we have been able to examine the structure of the myocytes and the functional differences that occur in MyBP-C mutated HCM cardiac tissue from single protein level, onto single cardiomyocyte contractility, through to whole organ function as assessed clinically by echocardiography.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据