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Article

Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy.

Neurobiology of disease - 1 Apr 2010

Michaud Magali, Arnoux Thomas, Bielli Serena, Durand Estelle, Rotrou Yann, Jablonka Sibylle, Robert Fabrice, Giraudon-Paoli Marc, Riessland Markus, Mattei Marie-Geneviève, Andriambeloson Emile, Wirth Brunhilde, Sendtner Michael, Gallego Jorge, Pruss Rebecca M, Bordet Thierry

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by insufficient levels of the survival motor neuron (SMN) protein leading to muscle paralysis and respiratory failure. In mouse, introducing the human SMN2 gene partially rescues Smn(-)(/)(-) embryonic lethality. However current models were either too sever...

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Source

Identifiers

PMID: 20085811
DOI: 10.1016/j.nbd.2010.01.006

Genes

SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20085811-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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