Questions about this exon change
- Is DMD Exon 48-52 Deletion associated with DMD or BMD?
- Under the reading-frame rule (NM_004006.2), this change is out-of-frame and more often associated with Duchenne muscular dystrophy (DMD). This is educational, not a diagnosis.
- Which exon skipping is suitable for DMD Exon 48-52 Deletion?
- Skipping exon 53 would restore the reading frame for this deletion. This is educational information, not a prescription; a clinician must confirm eligibility. RNA splicing exceptions exist.
