Assembly defects of desmin disease mutants carrying deletions in the α-helical rod domain are rescued by wild type protein

Most mutations of desmin that cause severe autosomal dominant forms of myofibrillar myopathy are point mutations and locate in the central α-helical coiled-coil rod domain. Recently, two in-frame deletions of one and three amino acids, respectively, in the α-helix have been described and discussed to drastically interfere with the architecture of the desmin dimer and possibly also the formation of tetramers and higher order complexes [Kaminska,...