Molecular characterization and reclassification of a 1.18Mbp DMD duplication following positive carrier screening for Duchenne/Becker Muscular Dystrophy
No container title available | November 10, 2020 | Volume: No volume available | Issue: No issue available | Pages: No page available
A 2-month-old male harboring a duplication of DMD exons 1-7 classified as pathogenic by an outside institution presented with mildly elevated CK levels; molecular breakpoint analysis by our laboratory reclassified the duplication as likely benign. To date, proband continues to develop normally with decreased CK levels, further supporting our reclassification.