Desmin myopathy with cardiomyopathy

Abstract

We report a case of abnormal desmin accumulation within the muscle of a 30-year-old female with a 2-year history of cardiomyopathy and axial muscle weakness. Serum creatine kinase was normal. A quadriceps muscle biopsy revealed pink hyaline inclusions, which stained for acid phosphatase and with PAS and were present in both fibre types. Electron microscopy showed these inclusions to consist of aggregates of irregularly arranged 6- to 15-nm-diameter filaments enmeshed within a central core of dense granulo-amorphous material. In other areas, the granulo-amorphous material lay as irregular patches within the sarcoplasm, mainly at the level of the "Z" band causing disruption of the sarcomere. Immunoelectron microscopy using colloidal gold showed that the dense amorphous material reacted strongly with desmin antisera and could, therefore, represent a defective or phosphorylated form of the protein.