Molecular characterization and reclassification of a 1.18 Mbp  DMD  duplication following positive carrier screening for Duchenne/Becker muscular dystrophy | Zendy

ZepedaMendoza Cinthya J. | Zendy; Bontrager Jordan E. | Zendy; Fisher Camille F. | Zendy; McDonald Amber | Zendy; GeorgeAbraham Jaya K. | Zendy; Hasadsri Linda | Zendy

Open Access

Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy

Author(s) -

ZepedaMendoza Cinthya J.,

Bontrager Jordan E.,

Fisher Camille F.,

McDonald Amber,

GeorgeAbraham Jaya K.,

Hasadsri Linda

Publication year - 2022

Publication title -

clinical case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.21

H-Index - 9

ISSN - 2050-0904

DOI - 10.1002/ccr3.6008

Subject(s) - proband , gene duplication , medicine , duchenne muscular dystrophy , creatine kinase , muscular dystrophy , exon , genetics , pediatrics , gene , mutation , biology

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.

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