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Molecular characterization and reclassification of a 1.18Mbp DMD duplication following positive carrier screening for Duchenne/Becker Muscular Dystrophy
  • +3
  • Cinthya Zepeda-Mendoza,
  • Jordan Bontrager,
  • Camille Fisher,
  • Amber McDonald,
  • Jaya George-Abraham,
  • LINDA HASADSRI
Cinthya Zepeda-Mendoza
ARUP Laboratories
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Jordan Bontrager
Mayo Clinic
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Camille Fisher
Texas Oncology
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Amber McDonald
Mayo Clinic
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Jaya George-Abraham
Dell Children's Medical Center of Central Texas
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LINDA HASADSRI
Mayo Clinic
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Abstract

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.

Peer review status:UNDER REVIEW

09 Nov 2020Submitted to Clinical Case Reports
10 Nov 2020Submission Checks Completed
10 Nov 2020Assigned to Editor
18 Jan 2021Reviewer(s) Assigned
18 Jan 2021Review(s) Completed, Editorial Evaluation Pending
28 Mar 2021Editorial Decision: Revise Minor
21 Jun 20211st Revision Received
22 Jun 2021Assigned to Editor
22 Jun 2021Submission Checks Completed
22 Jun 2021Review(s) Completed, Editorial Evaluation Pending