Effect of the p.R4180K mutation in endothelial cells were first reported by Hitomi et al. who compared iPS-derived ECs from patients with MMD and unaffected carrier with the p.R4810K mutation and control individuals with wild type RNF213. Angiogenic ability (tube formation) of iPS-ECs from patients and mutation carriers were lower than those from wild-type subjects (60). Here, RNF213 is linked to multiminicore myopathy.