The RNF213 gene was identified in 2011 as a susceptibility gene for MMD, and RNF213 c.14429G > A (p.Arg4810Lys, rs112735431) (based on NM_001256071 and NP_00124300 in the National Center for Biotechnology Information Reference Sequences) was found to be significantly associated with MMD [5, 6]. This evidence concerns the gene RNF213 and multiminicore myopathy.