Other genes identified in this study have known roles in cytoskeletal organization, integrity, and remodeling, as well as in ECM deposition or remodeling, such as RPTN, NAPSA, AMPH, COBL, and IQSEC1. In the context of the abnormal SMC proliferation and angiogenesis observed in MMD, these variants may interfere with the complex and intricate communication between SMCs and EC required to maintain normally functioning vasculature. Here, COBL is linked to multiminicore myopathy.