In this study, we found that AKT1, CLDN3, ISG20, and TGFB2 were identified as the feature hypoxia-immune genes relevant to MMD through a bioinformatics approach, which combined high-throughput sequencing, immune infiltration, machine learning, and external validation, and that these genes could provide new perspectives for the diagnosis of MMD. The gene discussed is CLDN3; the disease is multiminicore myopathy.