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: | I. Vieitez, P. Gallano, L. González-Quereda, S. Borrego, I. Marcos, J.M. Millán, T. Jairo, C. Prior, J. Molano, M.J. Trujillo-Tiebas, J. Gallego-Merlo, M. García-Barcina, M. Fenollar, C. Navarro |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier España
2017-07-01
|
Series: | Neurología (English Edition) |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2173580817300895 |
Similar Items
-
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
by: Kunkel, L, et al.
Published: (1986) -
Utrophin in the therapy of Duchenne Muscular Dystrophy
by: Potter, A, et al.
Published: (2006) -
Myocardial strain imaging in Duchenne muscular dystrophy
by: Conner C. Earl, et al.
Published: (2022-11-01) -
Presence of mechanical dyssynchrony in duchenne muscular dystrophy
by: Akula Nandakishore, et al.
Published: (2011-02-01) -
Appendicular lean mass index changes in patients with Duchenne muscular dystrophy and Becker muscular dystrophy
by: Brenda L. Wong, et al.
Published: (2023-12-01)