Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases

• Main Authors: Liqing Chen (Author), Xiaoping Luo (Author), Hongling Wang (Author), Yu Tian (Author), Yan Liu (Author)
• Format: Book
• Published: BMC, 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 gene are a less frequent cause of the disorder, largely because they often evade detection by s...