Numerous motor and structural proteins compose a highly ordered structure known as the sarcomere, the basic unit of muscle contraction in heart and skeletal muscles. Sarcomeric myosin heavy chain ...

With fibrosis of the cardiac skeleton there is calcification at the base of the aortic valve and damage to the His bundle as it perforates the right fibrous trigone. Finally there is decreased ...

In both affected siblings, an accumulation of amorphous material immunoreactive for desmin, dystrophin and vimentin was observed in the cytoplasm of the skeletal muscle cells. An uncle and the ...