COL4A1 and COL4A2 mutations have been reported in a broad spectrum of disorders, including myopathy, glaucoma, cerebrovascular disease, and renal, ophthalmological, cardiac, and muscular abnormalities, which were collectively termed “COL4A1 and COL4A2 mutation-related disorders” [32,121,122,123,124]. This evidence concerns the gene COL4A2 and myopathy.