Most of the EDMD-linked mutations in FHL1 are located in the most distal exons (5–8) of the gene and differentially affect expression and splicing of the three main FHL1 isoforms (Gueneau et al. 2009; Tiffin et al. 2013; Ziat et al. 2016). The gene discussed is FHL1; the disease is Emery-Dreifuss muscular dystrophy.