Desmin-related myofibrillar myopathy

Desmin-related myofibrillar myopathy is a subgroup of the myofibrillar myopathy diseases. It results from a mutation in the gene that codes for desmin, a protein that would normally form protein filaments. Because of the mutation the desmin cannot form those filaments, and it instead forms aggregates of desmin and other proteins throughout the cell. The condition is therefore defined by a protein aggregation mechanism inside cells rather than by one visible sign. This entry records what the source lead supports and is not medical advice; symptoms, age of onset, inheritance pattern and treatment are left for later depth work.