TARDBP and distal hereditary motor neuropathy: Moreover, a deregulation in the RNA binding protein (RBP) TDP-43 activity has been observed in dHMN and MFM patients carrying the K141E mutation; in particular, alteration of splicing of TDP-43 target genes and decreased mRNA levels of TDP-43 correlating to HSPB8 aggregation were observed in patients muscles (Cortese et al., 2018).