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Article

The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy

1 Nov 1998

Abstract excerpt

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of motor neurons of the spinal cord and muscular atrophy. SMA is caused by alterations to the survival of motor neuron (SMN) gene, the function of which has hitherto been unclear. Here, we present immunoblot analyses showing that normal SMN protein expression undergoes a marked decay in the postnatal...

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PMID: 9811937
DOI: 10.1093/hmg/7.12.1927

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