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The molecular bases of spinal muscular atrophy
Tony Frugier1, Sophie Nicole, Carmen Cifuentes-Diaz
1Molecular Neurogenetics Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Evry, E.9913, Genopole, 2 rue Gaston Crémieux, CP 5724, 91057, Evry, France.
Current Opinion in Genetics & Development
|June 22, 2002
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.