Desminopathies: pathology and mechanisms.

Abstract excerpt

The intermediate filament protein desmin is an essential component of the extra-sarcomeric cytoskeleton in muscle cells. This three-dimensional filamentous framework exerts central roles in the structural and functional alignment and anchorage of myofibrils, the positioning of cell organelles and signaling events. Mutations of the human desmin gene on chromosome 2q35 cause autosomal dominant, autosomal recessive,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiomyopathies
• Share to Desmin
• Share to Disease Models, Animal