In addition to XMPMA (Windpassinger et al. 2008), mutations in the FHL1 gene have been associated with other four clinically distinct human myopathies, including reducing body myopathy (RBM) (Schessl et al. 2008, 2009), X-linked dominant scapuloperoneal myopathy (SPM) (Quinzii et al. 2008; Chen et al. 2010), Emery-Dreifuss muscular dystrophy (EDMD) (Gueneau et al. 2009), and rigid spine syndrome (RSS) (Shalaby et al. 2008). This evidence concerns the gene FHL1 and reducing body myopathy.