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Fisher, Camille

https://orcid.org/0000-0001-5352-1940

A5046921214 | I4210102018

Mayo Clinic

Dell Children's Medical Center of Central Texas

Citations 2

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

10.1002/ccr3.6008 | PMID 35846917

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.
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

10.22541/au.160503137.79086890/v1

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.