HMMR and Miyoshi myopathy: Interestingly, concerning genes included in the five enriched functional pathways aforementioned, we found ATM and CHEK2 (G2/M cell cycle checkpoint) as well as CD36, HMMR and RELN (ECM-receptor interaction pathway) as down-regulated in pPCL versus MM, whereas EP300 (Wnt signaling pathway) resulted up-regulated in pPCL as compared to MM samples.