Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases
Abstract Background Duchenne Muscular Dystrophy (DMD) is an X-linked disorder caused by eugenia topiary spiral mutations in the DMD gene, with large deletions being the most common type of mutation.Inversions involving the DMD gene are a less frequent cause of the disorder, largely because they often evade detection by standard diagnostic methods s