Four DMD cases were wheel chair-bound before 12 years of age. One DMD patient had a Akt inhibitor brother died at age of 17 years (case number 5). One BMD brother died at age of 19 years (case number 24). One patient with non determined phenotype had a brother died at age of 36 years (case number 37). One non determined patient was still ambulant at age 19 years while his brother was bed ridden at 12 years (case number 36). Table ​Table11 describes the patients & the results. Table 1 Phenotypic genotypic correlation. The control blood samples were collected from unrelated normal Inhibitors,research,lifescience,medical healthy individuals

(5 males and 5 females) who had no family history of any muscle disease. Dystrophin gene deletion was detected in twenty two patients, as shown in (Table ​(Table1)1)

and (Fig. ​(Fig.1a-b),1a-b), while two patients showed duplication, at exon 52 in patient number 26 and exon 50 in patient number 28 as shown in (Table ​(Table1)1) and (Fig. ​(Fig.2).2). Twelve patients showed neither deletion nor duplication and the dystrophin protein was affected in the immunohistochemical Inhibitors,research,lifescience,medical study while five patients had neither deletion nor duplication and the dystrophin protein was intact as shown in (Table ​(Table1)1) and (Fig. ​(Fig.33). Figure 1 Multiplex PCR amplification of genomic DNA from unrelated Inhibitors,research,lifescience,medical male patients using two sets of primers Chamberlain (set A) and Beggs (set b) as described patients and methods and PCR products were electrophoresed Inhibitors,research,lifescience,medical on 3% nusceive gels containing ethidium bromide. … Figure 2 Quantitative PCR amplification of genomic DNA from unrelated male patients, using Beggs

set of primers ( Bc) amplifying exons 47–60–52 as described in patients and methods and PCR products were electrophoresed on 1.5%nusceive gels containing … Figure 3 Immunohistochemical study of muscle biopsies using dystrophin antibodies, for cases which had neither deletion nor duplication within the dystrophin gene. a: mosaic appearance of BMD, b: faint dystrophin staining of BMD, c: no staining of DMD, d: normal … In order to calculate the percentage of deletion in our study accurately the 5 patients with normal dystrophin Inhibitors,research,lifescience,medical PD184352 (CI-1040) were excluded. In the results, 61.1% of patients had dystrophin gene deletion. The most frequently deleted exon was exon 51. We had one patient with deletion at the promoter site pm and one patient had deletion of exon 60. In our study fourteen patients had deletion in the major hotspot region between exons 44 and 52 (63.6%). Nine patients had the deletion confined to the distal hot spot (exons pm and 19) (40.9%) (Table ​(Table22). Table 2 Frequency distribution of deletions in different exons. The clinical severity of the disorder in patients with deletions was tested against the “reading frame hypothesis”. The border type and the effect of deletion on the translational reading frame. Deletions that created a frame-shift mutation in the protein coding region caused DMD, while inframe deletions caused BMD.