KMT5A and Miyoshi myopathy: Gene set expression analysis (GSEA) of patients with high SETD8 expression highlighted a significant enrichment of genes involved in IRF4 targets, MYC-MAX targets, MAPK pathway and DNA repair (Additional files 2 and 3: Figure S2, p < 0.001), suggesting that SETD8 up-regulation correlates with changes in signaling pathways involved in MM pathophysiology.