Spinal muscular atrophy: a clinical and research update.

@article{Markowitz2012SpinalMA,
  title={Spinal muscular atrophy: a clinical and research update.},
  author={Jennifer A Markowitz and Priyamvada Singh and Basil T. Darras},
  journal={Pediatric neurology},
  year={2012},
  volume={46 1},
  pages={1-12}
}
Spinal muscular atrophy, a hereditary degenerative disorder of lower motor neurons associated with progressive muscle weakness and atrophy, is the most common genetic cause of infant mortality. It is caused by decreased levels of the "survival of motor neuron" (SMN) protein. Its inheritance pattern is autosomal recessive, resulting from mutations involving the SMN1 gene on chromosome 5q13. However, unlike many other autosomal recessive diseases, the SMN gene involves a unique structure (an… CONTINUE READING
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