O54: Molecular insights and cautionary tale of duplications in Duchenne and Becker muscular dystrophy across a large cohort

Genetics in Medicine Open 2026 Open access

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Authors: Naga Guruju, Vanessa Jump, Ruby Liu, Babi Ramesh Reddy Nallamilli, Kayla Banks, Ann Martin, Nishanth Chinta, Madhuri Hegde, Christin D. Collins
DOI: 10.1016/j.gimo.2026.104345
Cited by: 0

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by variants in the DMD gene. Comprehensive genetic analysis is essential for accurate diagnosis and heterozygote detection. Next-generation sequencing (NGS) enables detection of the full spectrum of DMD variants, including deletions, duplications, single nucleotide variants (SNVs), and complex rearrangements. However, precise localization of duplications is often limited by conventional molecular techniques such as multiplex ligation-dependent probe amplification (MLPA) and chromosomal microarray analysis.

Fields of Study & Subjects

Muscle Physiology and Disorders Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104345–104345
Publication date
1 January 2026
Language
EN