The R120G mutation results in an irregular protein structure and defective chaperone-like function (Bova et al. 1999), which may accelerate the accumulation of desmin aggregation, thereby leading to desmin-related myopathy and also early onset of cardiomyopathy (Selcen and Engel 2003; Vicart et al. 1998). Here, DES is linked to myopathy.