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.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
López-Hernández LB,Ayala-Madrigal ML,van Heusden D,Estrada-Mena FJ,Canto P,Sandoval-Ramírez L,Gómez-Díaz B,Coral-Vázquez RMsubject
Has Abstractpub_date
2011-02-16 00:00:00pages
239-49issue
4eissn
0210-0010issn
1576-6578pii
rn2010502journal_volume
52pub_type
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