Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES
Combining MLPA and WES enhances DMD diagnostic accuracy, enabling timely clinical interventions. Integrating functional analysis with genotype-phenotype correlations supports personalized therapeutic strategies, improving patient outcomes.
Authors
- Avisha Mathur
- Ashmeet Kaur (ORCID: https://orcid.org/0000-0001-7164-846X)
- Priyanshu Mathur
- Kamlesh Agarwal
- Lokesh Kumar Agarwal
- Deepti Choudhary
Institutions
- SMS Medical College (IN)
Publication Details
- Journal
- Global Medical Genetics
- Published
- 2025-02-06
- DOI
- https://doi.org/10.1016/j.gmg.2025.100038
- Citations
- 2
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.61