Apart from MMD, RNF213 variants have also been described in other cerebrovascular diseases such as intracranial aneurysms and intracranial major artery stenosis/occlusion and different mutation sites may be involved in various cerebrovascular diseases as mutations in the ATPase domain are predominantly related to intracranial aneurysms and mutations in the RING finger domain are all related to MMD (c.11990 G > A, c.12020 C > G, c.12037 G > A, and c.12055 C > T) [127, 129, 135, 149, 150]. Here, RNF213 is linked to multiminicore myopathy.