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Article

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology.

Neuromuscular disorders : NMD - 1 Mar 2012

Bowerman Mélissa, Murray Lyndsay M, Beauvais Ariane, Pinheiro Bruno, Kothary Rashmi

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by mutations/deletions within the SMN1 gene and characterized by loss of lower motor neurons and skeletal muscle atrophy. SMA is clinically heterogeneous, with disease ranging from severe to mild. Here, we identify a critical threshold of Smn that dictates onset of SMA in the intermediate Smn(2B/-) mouse model. With about 15% normal level of Smn protein, Smn(2B/-) mice...

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Source

Identifiers

PMID: 22071333
DOI: 10.1016/j.nmd.2011.09.007

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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