Improvements in the diagnosis of dystrophinopathies: What have we learnt in these last 20 years?

Luz B. López-Hernández, M. Luz Ayala-Madrigal, Dave Van Heusden, Francisco J. Estrada-Mena, Patricia Canto, Lucila Sandoval-Ramírez, Benjamín Gómez-Díaz, Ramón Mauricio Coral-Vázquez

Research output: Contribution to journalScientific review

7 Scopus citations

Abstract

Introduction. Dystrophinopathies are X-linked genetic disorders caused by mutations in the DMD gene. Genetic tests are of utmost importance for management and genetic counseling of these diseases. However, the complexity of the DMD gene is a challenge for diagnosis. Aim. To describe recent advances in the diagnosis of dystrophinopathies, after 20 years since the firsts molecular assays for genetic screening for these diseases. Development. Currently, a variety of strategies such as automated mutation detection, cell-based methods and high throughput haplotyping have been developed to facilitate diagnosis of dystrophinopathies, carrier detection, prenatal and preimplantation diagnosis. Conclusion. New technologies have improved early detection and optimal management of dystrophinopathies and have established the basis for future molecular medicine. The most significant advances in dystrophinopathy diagnosis are reviewed herein. © 2011 Revista de Neurología.
Original languageAmerican English
Pages (from-to)239-249
Number of pages214
JournalRevista de Neurologia
StatePublished - 16 Feb 2011

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    López-Hernández, L. B., Ayala-Madrigal, M. L., Van Heusden, D., Estrada-Mena, F. J., Canto, P., Sandoval-Ramírez, L., Gómez-Díaz, B., & Coral-Vázquez, R. M. (2011). Improvements in the diagnosis of dystrophinopathies: What have we learnt in these last 20 years? Revista de Neurologia, 239-249.