Mutational spectrum of Duchenne muscular dystrophy in Spain: study of 284 cases
Introduction: Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disease that affects one in 3500 live-born males. The total absence of dystrophin observed in DMD patients is generally caused by mutations that disrupt the reading frame of the DMD gene, and about 80% of ca...
Main Authors: | , , , , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier España
2017-07-01
|
Series: | Neurología (English Edition) |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2173580817300895 |