Spinal muscular atrophy - PubMed (original) (raw)
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Spinal muscular atrophy
J Melki. Curr Opin Neurol. 1997 Oct.
Abstract
Proximal childhood spinal muscular atrophy is a common autosomal recessive disorder that results in degeneration of lower motor neurons of the spinal cord. The defective gene, survival of motor neuron, encodes a novel protein with a putative role in RNA metabolism. Further work is required to define clearly the mechanism by which the survival of motor neuron gene defect would result in motor neuron degeneration.
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