Specifically, the expression pattern of TBX1, CLDN17, RFX2, COL5A3, IFIT2, CEACAM1, WDR78, LXN, SLC39A8, ZNF83, RPS27L, LSM3, CTSK, and PMP22 was exclusively correlated to MM and mutant CDKN2A MM prone skin cells, and inversely with NMSC. The gene discussed is COL5A3; the disease is Miyoshi myopathy.