RNF213 and multiminicore myopathy: In 2011, it was discovered that RNF213 mutations play a pivotal role in the genetic basis of MMD.[11] The RNF213 gene is responsible for encoding a substantial protein comprising 5207 amino acids, weighing 584 kDa.[12] Its intricate structural characteristics contribute to the scarcity of biochemical data, making it challenging to pinpoint the exact mechanism that triggers MMD.