Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES.

ABSTRACT:

Background

Duchenne muscular dystrophy (DMD) is a progressive X-linked disorder causing muscle degeneration and multisystem involvement, requiring precise genetic diagnosis for timely intervention and treatment.

Objective

To investigate the genetic landscape of DMD using a two-tiered diagnostic approach combining MLPA and WES, and to correlate genetic findings with clinical outcomes for improved management.

Materials and methods

A cross-sectional study of 80 male DMD patients was conducted using a sequential genetic approach, combining MLPA and WES, with bioinformatics and statistical analyses to explore genotype-phenotype correlations.

Results

Pathogenic variants were identified in 65 cases (81.2 %), with deletions (67.5 %) being the most common, followed by d

SUBMITTER: Mathur P 

PROVIDER: S-EPMC11871439 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature