Conversely, the comparison between MMD probands and controls showed an enrichment of rare RNF213 variants located in the RING finger domain and in the C-terminal region in MMD cases (p < 0.004 for comparison with mutated Biogear dataset and p ≤ 0.001 for comparison with mutated gnomAD controls). The gene discussed is RNF213; the disease is multiminicore myopathy.