In summary, dosage of the RNF213 p.R4810K variant appears to influence the clinical phenotype and postoperative outcome but not the long-term prognosis of MMD patients with differences between Japanese/Korean and Chinese patients, which is why it is suggested that RNF213 mutational analysis should form part of the diagnostic workup for MMD in clinical practice. Here, RNF213 is linked to multiminicore myopathy.