Previous studies have shown that the most frequently mutated genes in MM (>10%) include neurofibromin 1 (NF1), which negatively regulates the RAS/MAPK signaling pathway; the KIT proto-oncogene receptor tyrosine kinase (KIT), which is involved in promoting cell proliferation; and splicing factor 3b subunit 1 (SF3B1), which drives aberrant RNA splicing (3, 63, 64). This evidence concerns the gene NF1 and Miyoshi myopathy.