Synaptic defects in type I spinal muscular atrophy in human development.

@article{MartnezHernndez2013SynapticDI,
  title={Synaptic defects in type I spinal muscular atrophy in human development.},
  author={Rebeca Mart{\'i}nez-Hern{\'a}ndez and S Mauro Alfredo Bernal and Eva Also-Rallo and Laura Al{\'i}as and Mar{\'i}a Jes{\'u}s Labordena Barcel{\'o} and Marta Hereu and Josep E. Esquerda and Eduardo F. Tizzano},
  journal={The Journal of pathology},
  year={2013},
  volume={229 1},
  pages={
          49-61
        }
}
Childhood spinal muscular atrophy is an autosomal recessive neuromuscular disorder caused by alterations in the Survival Motor Neuron 1 gene that triggers degeneration of motor neurons within the spinal cord. Spinal muscular atrophy is the second most common severe hereditary disease of infancy and early childhood. In the most severe cases (type I), the disease appears in the first months of life, suggesting defects in fetal development. However, it is not yet known how motor neurons… CONTINUE READING
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