Several sequencing studies, some within families, have already suggested rare variants contributing to MM susceptibility in genes, including KIF18A [47], USP45/ARID1A [48], CDKN2A [49], DIS3 [50], LSD1 [51], BTNL2 [52], EOMES [52], TNFRSF13B [52], IRF8 [52], ACOXL [52] and TSPAN32 [52]. The gene discussed is ARID1A; the disease is Miyoshi myopathy.