Recent genetic sequencing studies have identified alterations in neuroblastoma RAS viral oncogene homolog (NRAS), BRAF, neurofibromin 1 (NF1), KIT, splicing factor 3b subunit 1 (SF3B1), tumor protein p53 (TP53), and sprouty-related EVH1 domain-containing protein 1 (SPRED1), revealing potential targeted therapeutic strategies for MM. The gene discussed is SF3B1; the disease is Miyoshi myopathy.