title: [Genotype-phenotype discordance in a Duchenne muscular dystrophy patient due to a novel mutation: insights into the shock absorber function of dystrophin].
abstract: BACKGROUND
  Duchenne muscular dystrophy (DMD) is a genomic disorder characterized by progressive muscle wasting and weakness due to the absence or abnormal function of dystrophin; a protein that protects muscle cells from mechanical induced stress during contraction. Mutations in the DMD gene, may lead to different clinical phenotypes, collectively known as dystrophinopathies, of which DMD has the earliest onset and most severe progression.
  
  
  METHODS
  We report a novel deletion of exons 24-41, predicted to maintain the reading frame and expected to result in a mild phenotype. Conversely, the patient has a severe DMD phenotype.
  
  
  CONCLUSIONS
  Our report supports the hypothesis that disruption of the gamma-actin-binding site located in the central rod domain plays a crucial role in the shock absorber function of dystrophin in muscle cells. Description of pathogenic variants in the DMD gene and the resulting phenotypes has important implications on the designing of molecular therapeutic approaches for DMD.
authors: Centro Universitario de Cienciasde la Salud, Universidad de Guadalajara, México.
authors: Luz B
authors: LB
authors: López-Hernández
authors: Dave
authors: D
authors: van Heusden
authors: Marvin A
authors: MA
authors: Soriano-Ursúa
authors: Luis
authors: L
authors: Figuera-Villanueva
authors: Norma A
authors: NA
authors: Vázquez-Cárdenas
authors: Patricia
authors: P
authors: Canto
authors: Benjamín
authors: B
authors: Gómez-Díaz
authors: Ramón M
authors: RM
authors: Coral-Vázquez