Synaptic defects in spinal muscular atro
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Laura Torres-Benito; RocΓo Ruiz; LucΓa Tabares
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Article
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2011
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Wiley (John Wiley & Sons)
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English
β 180 KB
## Abstract Proximal spinal muscular atrophy, the most frequent genetic cause of childhood lethality, is caused by homozygous loss or mutation of the __SMN1__ gene on human chromosome 5, which codes for the survival motor neuron (SMN) protein. SMN plays a role in the assembly of small nuclear ribon