found that the p.R4810K point mutation (rs112735431, G → A) in the RING finger domain of RNF213 does not affect the transcriptional and ubiquitin activity of the protein, but could induce MMD pathogenesis, and there was co‐segregation between the RNF213 p.R4810K mutation and the MMD phenotype. Here, RNF213 is linked to multiminicore myopathy.