Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

Conclusion
These findings indicate that mRNA analysis of the DMD gene is a valuable tool to reach a precise genetic diagnosis in patients with a clinical and anatomopathological suspicion of dystrophinopathy that remain genetically undiagnosed after routine genetic testing.

Source: Journal of Medical Genetics - May 22, 2023 Category: Genetics & Stem Cells Authors: Segarra-Casas, A., Dominguez-Gonzalez, C., Hernandez-Lain, A., Sanchez-Calvin, M. T., Camacho, A., Rivas, E., Campo-Barasoain, A., Madruga, M., Ortez, C., Natera-de Benito, D., Nascimento, A., Codina, A., Rodriguez, M. J., Gallano, P., Gonzalez-Quereda, L Tags: Open access Diagnostics Source Type: research