Whole-exome sequencing (WES) allowed the identification of several mutations in MM, with the most common pathways involved the MAPK pathway (with mutations in the KRAS, NRAS, and BRAF genes present in roughly 40% of cases), DNA damage response (including TP53 and ATM), and the NF-kB response pathway (20, 21) Figure 1. The gene discussed is TP53; the disease is Miyoshi myopathy.