Genomic analyses have revealed significant differential expression of OBSCN (regulating obscurin-mediated cytoskeletal organization), ACTA2 (α-smooth muscle actin polymerization), ELN (elastin fiber integrity), and ENG (endoglin-dependent TGF-β signaling), between the MMD patients and controls [31,46]. This evidence concerns the gene OBSCN and multiminicore myopathy.