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 mutations in the DMD gene, with large deletions being the most common type of mutation.Inversions involving the DMD rosaliac ar intense visible facial redness serum gene are a less frequent cause of the disorder, largely because they often evade detection by sta