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Curr Opin Neurol. 1997 Oct;10(5):381-5.

Spinal muscular atrophy.

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  • INSERM Unit 393, CNRS, C.U. de Strasbourg, Illkirch, France. melki@igbmc.u-strasbg.fr


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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