Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients.

@article{Mrad2006MolecularAO,
  title={Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients.},
  author={R Lejmi Mrad and I Dorboz and Lamia Ben Jemaa and Faouzi M{\^a}azoul and Mediha Trabelsi and Meriem Chaabouni and Brahim Mlaiki and Nakjoua Miladi and F. El Hentati and Habiba B Bouhamed Chaabouni},
  journal={La Tunisie medicale},
  year={2006},
  volume={84 8},
  pages={465-9}
}
In this study we examined the deletion of SMN and NAIP genes in 60 Tunisian families. There were 35 patients with type I SMA. 18 with type II SMA. 6 with type III SMA and I with type IV SMA. The age of onset was before 6 months for type I, between 6 months and 2 years for type II, between 2 years and 17 years for type III and 30 years for type IV. Exon 7 of SMNI gene was homozygously deleted in 95% (57/60) of SMA patients. There was a higher frequency of homozygous absence of SMN1 in type I and… CONTINUE READING