[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.

journal_name

Rev Neurol

journal_title

Revista de neurologia

authors

López-Hernández LB,Ayala-Madrigal ML,van Heusden D,Estrada-Mena FJ,Canto P,Sandoval-Ramírez L,Gómez-Díaz B,Coral-Vázquez RM

subject

Has Abstract

pub_date

2011-02-16 00:00:00

pages

239-49

issue

4

eissn

0210-0010

issn

1576-6578

pii

rn2010502

journal_volume

52

pub_type

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