Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
oleh: Cinthya J. Zepeda‐Mendoza, Jordan E. Bontrager, Camille F. Fisher, Amber McDonald, Jaya K. George‐Abraham, Linda Hasadsri
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2022-07-01 |
Deskripsi
Abstract A 2‐month‐old male patient harboring a duplication of DMD exons 1–7 classified as pathogenic by an outside institution presented with mildly elevated creatine phosphokinase (CK); molecular breakpoint analysis by our laboratory reclassified the duplication as likely benign. To date, proband continues to develop normally with decreased CK, further supporting our reclassification.