Brain Disorders & Therapy

Department of Otolaryngology, Ain Shams University, Cairo, Egypt

Publications

• Research Article   
  Patterns of Dystrophin Gene Deletion/Duplication in a Sample of Saudi Patients with Duchenne Muscular Dystrophy
  Author(s): Ayman Abdelhady, Salem Abdelhady* and Hebatallah Rashed
  
  Introduction: Duchenne muscular dystrophy (DMD) is caused by the lack of functional dystrophin molecules, either due to nonsense mutations (premature stop codons) or by large rearrangements (deletions or duplications) that disturb the reading frame and in consequence abolish the production of dystrophin in muscles. Methods: Twenty patients with muscular dystrophy diagnosed by clinical history, family pedigree, CK total and histopathology of muscle biopsy is subjected to screening for all 79 exons of dystrophin gene for deletions and duplications. Results and Discussion: Deletion was detected in 80% of patients, while 15% showed duplication, one patient shows nucleotide substitution (c.10033C>T) in exon 69. Most common deletion found between exon 44 and 52. Conclusion: Our study detected high.. View more»
  

  DOI: 10.35248/2157-7439.19.8.252

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