Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.

@article{Hasanzad2009DeletionsIT,
  title={Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.},
  author={Mandana Hasanzad and Zahra Golkar and Roxana Kariminejad and Valeh Hadavi and Navid Almadani and Fariba Afroozan and Iman Salahshurifar and Yousef Shafeghati and Kimia Kahrizi and Hossein Najmabadi},
  journal={Annals of the Academy of Medicine, Singapore},
  year={2009},
  volume={38 2},
  pages={139-41}
}
INTRODUCTION Spinal muscular atrophy (SMA) is a common neuromuscular disorder with progressive paralysis caused by the loss of alpha-motor neurons in the spinal cord. The survival motor neuron (SMN) protein is encoded by 2 genes, SMN1 and SMN2. The most frequent mutation is the biallelic deletion of exon 7 of the SMN1 gene. In SMA, SMN2 cannot compensate for the loss of SMN1, due to the exclusion of exon 7. The aim of our study was to estimate the frequency of the common SMN1 exon 7 deletion in… CONTINUE READING
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