Familial hypertrophic cardiomyopathy (HCM) is a primary myocardial disease with a
prevalence of 1 in 500 in human beings. Causative mutations have been identified in …

Background—Population-based studies have provided insight into the natural history of
adult hypertrophic cardiomyopathy, but comparable information for affected children is …

Cardiovascular diseases are the main cause of death worldwide. The ability to accurately
define individual susceptibility to these disorders is therefore of strategic importance …

The assembly of myosin into higher order structures is dependent upon accessory factors
that are often tissue-specific. UNC-45 acts as such a molecular chaperone for myosin in the …

Starting point The largest and most recent searches of the genome (Mark Caulfield and
colleagues, Lancet 2003; 361: 2118–23; Michael Province and colleagues, Am J Hypertens …

MYH9-related disorders are autosomal dominant syndromes, variably affecting platelet
formation, hearing, and kidney function, and result from mutations in the human nonmuscle …

Background: Familial hypertrophic cardiomyopathy (HCM) is a leading cause of sudden
cardiac death among young and apparently healthy people. Autosomal dominant mutations …

Aims While chronic alterations in cardiac triacylglycerol (TAG) metabolism and accumulation
are associated with cardiomyopathy, it is unclear whether TAG catabolizing enzymes such …

Background Coronary artery disease (CAD) is the leading cause of morbidity and mortality
worldwide. Multiple genetic variants in combination with various environmental risk factors …

Congenital disorders of glycosylation (CDG) represent a newly delineated group of inherited
multisystem disorders characterized by defective glycoprotein biosynthesis. In the present …