Mutations in COL6A1, COL6A2, and COL6A3 genes, identified with both recessive and mostly de novo dominant inheritance patterns, have different effects on collagen VI synthesis, assembly, secretion, and function, generating a phenotypically variable spectrum of COL6-related myopathies (Lamandé and Bateman, 2018). The gene discussed is COL6A1; the disease is myopathy.