PTK2 and Miyoshi myopathy: Among the top 10 upregulated circRNAs, circ-PTK2 (P < 0.001) (Fig. 5a), circ-RNF217 (P = 0.008) (Fig. 5c), circ-RERE (P = 0.001) (Fig. 5d), circ-NAGPA (P < 0.001) (Fig. 5f) and circ-KCNQ5 (P = 0.002) (Fig. 5g) were validated to be upregulated, while circ-ATIC (P = 0.132) (Fig. 5b), circ-SETD5 (P = 0.329) (Fig. 5e), circ-CSPP1 (P = 0.340) (Fig. H), circ-SFMPT2 (P = 0.918) (Fig. 5i) and circ-UGGT2 (P = 0.221) (Fig. 5j) expression levels were similar in MM patients compared with HCs.