Molecular characterization and reclassification of a 1.18 Mbp
DMD
duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
Clinical Case Reports | July 11, 2022 | Volume: 10 | Issue: 7 | Pages: No page available
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.