Background Meat quality is a prerequisite to the consumer's acceptability and industrial
profitability. Post-translational modifications, changes in myofibrillar protein degradation and …

Emery‐Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly
important to diagnose due to frequent life‐threatening cardiac complications. EDMD …

Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint
contractures, muscular dystrophy, and cardiac involvement with conduction defects and …

Arterial dissections, which involve an abrupt tear in the wall of a major artery resulting in the
intramural accumulation of blood, are a family of catastrophic disorders causing major …

The heart is an extraordinarily versatile pump, finely tuned to respond to a multitude of
demands. Given the heart pumps without rest for decades its efficiency is particularly …

Background: Hypertrophic cardiomyopathy (HCM) is characterized by a complex phenotype
that is only partly explained by the biological effects of individual genetic variants. The aim of …

Hypertrophic cardiomyopathy (HCM) is characterized by asymmetric left ventricular
hypertrophy, diastolic dysfunction and myocardial disarray. HCM is caused by mutations in …

Sarcomeres consist of highly ordered arrays of thick myosin and thin actin filaments along
with accessory proteins. Thick filaments occupy the center of sarcomeres where they …

We have identified a large multigenerational Austrian family displaying a novel form of X-
linked recessive myopathy. Affected individuals develop an adult-onset scapulo-axio …

Reducing body myopathy (RBM) is a rare disorder causing progressive muscular weakness
characterized by aggresome-like inclusions in the myofibrils. Identification of genes …