How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with dysfunctional α-motor neurons in the anterior horn of the spinal cord. SMA is caused by loss (∼95% of SMA cases) or mutation (∼5% of SMA cases) of the survival motor neuron 1 gene SMN1. As the product of SMN1, SMN is...
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Format: | Article |
Language: | English |
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Public Library of Science (PLoS)
2017-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC5453535?pdf=render |