Journal
JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
Volume 29, Issue 6-8, Pages 239-246Publisher
SPRINGER
DOI: 10.1007/s10974-009-9174-0
Keywords
Hypertrophic cardiomyopathy; Human heart; Myosin-binding protein C; Contractility; In vitro motility; Phosphorylation
Categories
Funding
- 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
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available