The molecular bases of spinal muscular atrophy.
作者： Tony Frugier , Sophie Nicole , Carmen Cifuentes-Diaz , Judith Melki
DOI: 10.1016/S0959-437X(02)00301-5
关键词: Spinal muscular atrophy 、 Neuroscience 、 Biology 、 Gene 、 Pathophysiology 、 Spinal cord 、 Survival of motor neuron 、 SMA* 、 Degeneration (medical) 、 Motor neuron 、 Anatomy
摘要: Spinal muscular atrophy (SMA) is a common recessive autosomal disorder characterized by degeneration of motor neurons the spinal cord. SMA caused mutations survival neuron gene that encodes multifunctional protein, and mouse models have been generated. These advances represent starting points towards an understanding pathophysiology this disease design therapeutic strategies in SMA.
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