title: [Improvements in the diagnosis of dystrophinopathies: what have we learnt in these last 20 years?].
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.
authors.affiliation: Escuela Superior de Medicina. Instituto Politecnico Nacional, Mexico DF, Mexico.
authors.forename: Luz B
authors.initials: LB
authors.lastname: López-Hernández
authors.forename: M Luz
authors.initials: ML
authors.lastname: Ayala-Madrigal
authors.forename: Dave
authors.initials: D
authors.lastname: van Heusden
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Estrada-Mena
authors.forename: Patricia
authors.initials: P
authors.lastname: Canto
authors.forename: Lucila
authors.initials: L
authors.lastname: Sandoval-Ramírez
authors.forename: Benjamín
authors.initials: B
authors.lastname: Gómez-Díaz
authors.forename: Ramón M
authors.initials: RM
authors.lastname: Coral-Vázquez
mesh_terms: D002353:Carrier State; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D019836:Preimplantation Diagnosis / Q000379:methods
chemical_list: D016189:Dystrophin; D005819:Genetic Markers