About the association results, there are two possible explanations: (1) MMD has been misclassified as ICASO due to the atypical manifestation with the absence of one or two diagnostic criteria and lead to the spurious association between RNF213 p.R4810K and ICASO or (2) RNF213 p.R4810K is indeed associated with ICASO. The gene discussed is RNF213; the disease is multiminicore myopathy.