Mutational spectrum of Duchenne muscular dystrophy in Spain: study of 284 cases

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...

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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

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