Spinal muscular atrophy.
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.
Melki
J
J
INSERM Unit 393, CNRS, C.U. de Strasbourg, Illkirch, France. melki@igbmc.u-strasbg.fr
D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D009046:Motor Neurons / Q000473:pathology; D009410:Nerve Degeneration / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D012313:RNA / Q000378:metabolism; D013116:Spinal Cord / Q000473:pathology; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
D012313:RNA