RNF213 and multiminicore myopathy: The p.Ala5021Val (c.15062C>T, rs138130613) RNF213 missense variant was identified in 2 patients with MMD (0.8%, 2/264); however, the allele frequency was not significantly different compared to that of the control group (0.38% in the MMD group versus 0.24% in control group; P = 1.00).