Summary

Desmin myopathy is a recently identi®ed disease associ-ated with mutations in desmin or aB-crystallin. Typically, the illness presents with lower limb muscle weakness slowly spreading to involve truncal, neck-¯exor, facial, bulbar and respiratory muscles. Skeletal myopathy is often combined with cardiomyopathy manifested by conduction blocks and arrhythmias resulting in premature sudden death. Sections of the affected skeletal and cardiac muscles show abnormal ®bre areas containing amorphous eosinophilic deposits seen as granular or granulo®lamentous material on electron microscopic examination. Immuno-staining for desmin is positive in each region containing abnormal structures. The inheritance pattern in familial desmin myopathy is autosomal dominant or autosomal reces