title: [Correlation between electroretinographic findings, clinical phenotypic and genotypic analysis in Duchenne and Becker muscular dystrophy].
abstract: OBJECTIVE
  To explore the relationship between electrophysiological changes, clinical phenotype and genotype in Duchenne and Becker muscular dystrophy(DMD/BMD), to address the expression and roles of dystrophin and its isoforms on the retina, and to inquire into the molecular mechanism of the abnormal electroretinogram(ERG) on DMD/BMD patients with different genotype.
  
  
  METHODS
  Gene deletions were screened by multiplex DNA amplification with eleven primers on twenty-two consecutive patients with DMD and BMD, and then, the ERG was tested according to international ERG standard.
  
  
  RESULTS
  ERG phenotype was associated with the site of DMD gene defects rather than the severity of the phenotype. Patients with deletion in the central region of the gene had more severe changes in the scotopic ERG as compared to those with gene non-deletion.
  
  
  CONCLUSIONS
  The ERG genotype-phenotype correlation suggests that DP260 may play the most important role in the retinal neurotransmission.
authors.affiliation: Department of Neurology, the First Affiliated Hospital, Sun Yat- Sen University of Medical Sciences, Guangzhou, Guangdong, 510080 P.R. China. YuYer@163.net
authors.forename: Y
authors.initials: Y
authors.lastname: Yang
authors.forename: C
authors.initials: C
authors.lastname: Zhang
authors.forename: W
authors.initials: W
authors.lastname: Sheng
authors.forename: S
authors.initials: S
authors.lastname: Pan
authors.forename: D
authors.initials: D
authors.lastname: Wu
authors.forename: F
authors.initials: F
authors.lastname: Jiang
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005838:Genotype; D006801:Humans; D007223:Infant; D009136:Muscular Dystrophies / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype