Pathway enrichment analysis of the downregulated genes in the MM + NP + ES group mainly mapped to MAPK/PI3K-AKT, TNFR2-NFκB, G-protein-coupled receptor (GPCR), and cytokine/chemokine signalling (Fig. 7e; Supplementary Fig. 5d; Supplementary Data 1). The gene discussed is AKT1; the disease is Miyoshi myopathy.