• Molecular diagnosis of spinal muscular atrophy in Egyptians 

      Shawky, R.M.; Abdel Aleem, K.; Rifaat, M.M.; Moustafa, A. (‎2001)‎
      This study was carried out with 33 spinal muscular atrophy [‎SMA]‎ patients. DNA molecular studies of the SMA gene on the long arm of chromosome 5 [‎5q11.2q13.3]‎ revealed homozygous deletion of exon 7 in 55% of cases, 36% of whom also had a homozygous delition of exon 8. The adult patients were heterozygous for an abnormal size exon 8. The remaining patients had either compound heterozygote deletion of exons 7 and 8 or were normal for both. There may therefore be 5q-unlinked SMA or SMA due to other mutations. Detection of deletions of SMA exons 7 ...