LMNA and Emery-Dreifuss muscular dystrophy: It is know that any direct correlation between mutations in the LMNA gene and clinical manifestations is hampered by the pleiotropic effect possibly exerted by Lamin A/C gene mutations.18 These pieces of evidence probably explain the very different clinical manifestations in this case when compared to the phenotype observed in our patient, as well as in other cases in the literature reported in this study, and the divergent diagnosis established as Emery-Dreifuss muscular dystrophy.