In particular, in SEPN1-related myopathy, marked atrophy has been recently reported in axial muscles but was also present in other muscles of the body in a selective and recognizable profile associating muscle signal abnormalities, a consequence of fibro-adipose infiltration and selective muscle atrophy (Mercuri et al., 2010; Hankiewicz et al., 2015). The gene discussed is SELENON; the disease is myopathy.