The RNF213 variant p.R4810K (c.14429G > A, rs112735431, ss179362673, R4810K hereafter) was first reported by the Kyoto group with a high level of association (odds ratio 63.9 95 %, confidence interval 33.9–120.4) [10] and shown to be associated with MMD at large scales [11, 12]. This evidence concerns the gene RNF213 and multiminicore myopathy.