The molecular bases of spinal muscular atrophy
T Frugier, S Nicole, C Cifuentes-Diaz, J Melki - Current opinion in genetics …, 2002 - Elsevier
T Frugier, S Nicole, C Cifuentes-Diaz, J Melki
Current opinion in genetics & development, 2002•ElsevierSpinal 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.
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.
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.
Elsevier