Later, gene expression studies regarding human muscular dystrophy samples, including dystrophinopathies and congenital muscular dystrophies, confirmed that, among several genes that are involved in fibrosis and TGFβ signaling, SPP1 was one of the more constantly and dramatically upregulated, which suggests a key role in dystropathology [38]. Here, TGFB1 is linked to neuromuscular disease caused by qualitative or quantitative defects of dystrophin.