As in our family, defects in SEPN1 have been associated with a variable clinico-histopathological picture that includes rigid spine muscular dystrophy (RSMD-1), multiminicore disease, desmin-related myopathy with Mallory body-like inclusions (MR-DRM) [26, 27], and also non-specific myopathological features [28]. This evidence concerns the gene DES and rigid spine muscular dystrophy 1.