Thus, while in East Asian countries MMD is strongly associated with the p.R4810K variant in the RNF213 gene that segregates with disease in an autosomal dominant manner with reduced penetrance [37], in accordance with findings of Guey et al. (2017) [36], our results provided evidence that several heterozygous rare RNF213 variants of a non-p.R4810K variety which are localized in the C-terminal hot spot domain, play a role for a substantial proportion of non-syndromic Moyamoya patients of European ancestry. This evidence concerns the gene RNF213 and multiminicore myopathy.