The molecular bases of spinal muscular atrophy - PubMed (original) (raw)
Review
The molecular bases of spinal muscular atrophy
Tony Frugier et al. Curr Opin Genet Dev. 2002 Jun.
Abstract
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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