DES and neuromuscular disease: Importantly, to date more than 70 mutations in the desmin gene have been causally linked to rare neuromuscular diseases called desminopathies, associated either with abnormal desmin expression linked to muscle protein aggregation (Goldfarb et al., 1998; Dagvadorj et al., 2004; Fidziańska et al., 2005; Mavroidis et al., 2008; Pica et al., 2008; Fichna et al., 2014; Clemen et al., 2015), or with a total lack of desmin [4 families described, (Carmignac et al., 2009; Henderson et al., 2013)].