Melki J
INSERM Unit 393, CNRS, C.U. de Strasbourg, Illkirch, France.
Curr Opin Neurol. 1997 Oct;10(5):381-5. doi: 10.1097/00019052-199710000-00005.
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.
儿童近端脊髓性肌萎缩症是一种常见的常染色体隐性疾病，可导致脊髓下运动神经元退化。缺陷基因——运动神经元存活基因，编码一种在RNA代谢中可能起作用的新型蛋白质。需要进一步开展研究以明确运动神经元存活基因缺陷导致运动神经元退化的机制。
