Spinal muscular atrophy : Current Opinion in Neurology (original) (raw)
Neuromuscular diseases: nerve: PDF Only
INSERM Unit 393 and Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM, CNRS, C.U. de Strasbourg, BP163, 67404 Illkirch cedex, France
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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