Sixteen of the 17 patients who developed MMD (94.1%) had the RNF213 p.R4810K mutation, showing that the mutation was significantly associated with the progression from MCAD to MMD (odds ratio [OR] = 16.1; 95% confidence interval [CI], 2.13–731; P = 0.001) (Table 1). The gene discussed is RNF213; the disease is multiminicore myopathy.