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Article

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy

28 Jun 2011

Abstract excerpt

Spinal muscular atrophy (SMA), which is caused by inactivating mutations in the survival motor neuron 1 (SMN1) gene, is characterized by loss of lower motor neurons in the spinal cord. The gene encoding SMN is very highly conserved in evolution, allowing the disease to be modeled in a range of species. The similarities in anatomy and physiology to the human neuromuscular system, coupled with the ease of genetic...

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PMID: 21708901
DOI: 10.1242/dmm.007245

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