- A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. Sjöberg, G., Saavedra-Matiz, C.A., Rosen, D.R., Wijsman, E.M., Borg, K., Horowitz, S.H., Sejersen, T. Hum. Mol. Genet. (1999)