The molecular bases of spinal muscular atrophy

Tony Frugier, Sophie Nicole, Carmen Cifuentes-Diaz, Judith Melki
Current Opinion in Genetics & Development 2002, 12 (3): 294-8
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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