RPTOR and Miyoshi myopathy: The meta-analysis of these large independent studies confirmed the association of 12 genetic variants within the ATG5, CD46, CDKN2A, CTSD, HSPB8, IKBKE, PARK2, RPTOR, ULK4, and USP10 loci with MM risk (Table 1), with loci in ULK4 and ATG5 reaching the highest level of statistical significance.