Genetic Causes of Hereditary Myopathies in a Cohort of Male Patients: Molecular Diagnosis in Myopathies
The combined use of MLPA and targeted NGS improves the molecular diagnosis of hereditary myopathies. This approach provides insights into the genetic landscape of neuromuscular disorders, enabling better clinical management, genetic counseling, and potential eligibility for emerging therapies.
Authors
- Fernando Suárez‐Obando (ORCID: https://orcid.org/0000-0001-6336-5347)
- Tatiana Pineda
- Tatiana Pineda Buitrago
- Reggie García‐Robles (ORCID: https://orcid.org/0000-0002-6804-0979)
- Mariana Guerra-Torres
- Paola Ayala‐Ramírez (ORCID: https://orcid.org/0000-0002-0141-1149)
- Mary García-Acero (ORCID: https://orcid.org/0000-0002-7109-3342)
Institutions
- Pontificia Universidad Javeriana (CO)
Publication Details
- Journal
- The Journal of Applied Laboratory Medicine
- Published
- 2025-09-12
- DOI
- https://doi.org/10.1093/jalm/jfaf157
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00