The strategy used in this study of integrating protein analysis with DNA molecular analysis achieved the following: (i) clarified the exact molecular and cellular profile of DMD patients, (ii) provided information about the mutational spectrum in the Romanian population, (iii) identified cases with discordant phenotype, (iv) shows the importance of protein and genetic data correlation for the correct identification of the phenotype, (v) identified, characterized, and contributed to variant databases with four novel point mutations in the rod domain of dystrophin-associated with the disease. The gene discussed is DMD; the disease is Duchenne muscular dystrophy.