Abstract ▼ AI-Helper

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 abnorm...

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. CONCLUSION: The ERG genotype-phenotype correlation suggests that DP260 may play the most important role in the retinal neurotransmission.