Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.

Hum MutatSep 30, 2026 (epub)
Case ReportMedical GeneticsOpen access

Shengfang Qin, Xueyan Wang, Jin Wang et al.

✦ AI-curated · Sources linked

Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Duchenne/Becker muscular dystrophy (DMD/BMD) is caused by variants in the X-linked DMD gene-most commonly deletions, duplications, or point mutations, and only rarely by complex chromosomal rearrangements (CCRs). In this study, structural variant sequencing (SVseq) was applied to a 14-year-old male patient with DMD.

Source

PubMed · PMID 42820057Free full text on PubMed Central

Published in Hum Mutat. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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