JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
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The molecular bases of spinal muscular atrophy.

Spinal muscular atrophy (SMA) is a common recessive autosomal disorder characterized by degeneration of motor neurons of the spinal cord. SMA is caused by mutations of the survival of motor neuron gene that encodes a multifunctional protein, and mouse models have been generated. These advances represent starting points towards an understanding of the pathophysiology of this disease and the design of therapeutic strategies in SMA.

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