Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy.
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SUBMITTER: Zepeda-Mendoza CJ
PROVIDER: S-EPMC9272227 | biostudies-literature | 2022 Jul
REPOSITORIES: biostudies-literature
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Molecular characterization and reclassification of a 1.18 Mbp <i>DMD</i> duplication following positive carrier screening for Duchenne/Becker muscular dystrophy.
Zepeda-Mendoza Cinthya J CJ Bontrager Jordan E JE Fisher Camille F CF McDonald Amber A George-Abraham Jaya K JK Hasadsri Linda L
Clinical case reports 20220711 7
A 2-month-old male patient harboring a duplication of <i>DMD</i> 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. ...[more]
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