TY - JOUR
T1 - Mejoras en el diagnóstico de distrofinopatías
T2 - ¿Qué hemos aprendido después de 20 años?
AU - López-Hernández, Luz B.
AU - Ayala-Madrigal, M. Luz
AU - Van Heusden, Dave
AU - Estrada-Mena, Francisco J.
AU - Canto, Patricia
AU - Sandoval-Ramírez, Lucila
AU - Gómez-Díaz, Benjamín
AU - Coral-Vázquez, Ramón Mauricio
PY - 2011/2/16
Y1 - 2011/2/16
N2 - 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.
AB - 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.
KW - Carrier
KW - Duchenne
KW - Dystrophin
KW - Preimplantation genetics
KW - Prenatal diagnosis
UR - http://www.scopus.com/inward/record.url?scp=79952263036&partnerID=8YFLogxK
U2 - 10.33588/rn.5204.2010502
DO - 10.33588/rn.5204.2010502
M3 - Artículo de revisión
SN - 0210-0010
VL - 52
SP - 239
EP - 249
JO - Revista de Neurologia
JF - Revista de Neurologia
IS - 4
ER -