Our previous studies showed that in East Asia, the founder variant RNF213 R4810K was much more frequently found in MMD patients (Japanese, 90.1 %; Korean, 78.9 %; Chinese, 23.1 %) than the general population (Japanese, 2.5 %; Korean, 2.7 %; Chinese, 0.9 %) [12, 18]. This evidence concerns the gene RNF213 and multiminicore myopathy.