Conclusion
Altogether, we have illustrated the importance of molecular characterization of DMD duplications in the clinical diagnosis of asymptomatic and young individuals. While duplications may escape finer characterizations due to current technical limitations, establishing their correct sizes and orientation is paramount to delivering an accurate clinical interpretation. As next generation sequencing becomes more widely available in DMD clinical testing, further molecular characterizations of duplication junctions in DMD can help elucidate and predict at-risk recombination sites, and better inform our diagnostic capabilities.