| In-frame deletions | Removal of one or more exons that maintain the reading frame, allowing production of a truncated but partially functional protein. These account for approximately 65-70% of BMD cases. |
| In-frame duplications | Additional copies of exons that also preserve the reading frame. |
| Missense mutations | Amino acid substitutions that partially impair dystrophin function without abolishing it. |
| Reduced dystrophin levels | Typically 10-30% of normal |
| Truncated protein | Often missing internal segments |
| Partially preserved function | Can still provide some membrane protection |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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