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Article

Animal models of spinal muscular atrophy.

Journal of child neurology - 1 Aug 2007

Schmid Aloicia, DiDonato Christine J

Abstract excerpt

Spinal muscular atrophy, a common autosomal recessive motor neuron disorder, is caused by the loss of the survival motor neuron gene (SMN1). SMN2, a nearly identical copy gene, is present in all spinal muscular atrophy patients but differs by a critical nucleotide that alters exon 7 splicing efficiency. This results in low survival motor neuron protein levels, which are not enough to sustain motor neurons. SMN...

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Source

Identifiers

PMID: 17761656
DOI: 10.1177/0883073807305667

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Splicing of the Survival Motor Neuron genes and implications for treatment of SMASemantic proximity Read ↗

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