The subtypes in which TDP-43 aggregates are observed are desminopathy, myotilinopathy and distal hereditary motor neuropathy combined with myofibrillar myopathy, caused by mutations in the DES, MYOT and HSPB8 genes, respectively (Selcen and Engel, 2011; Cortese et al., 2018). The gene discussed is TARDBP; the disease is Distal myotilinopathy.