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Article

Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy.

Journal of Zhejiang University. Science. B - 1 Jan 2016

Cao Yan-yan, Qu Yu-jin, He Sheng-xi, Li Yan, Bai Jin-Ll, Jin Yu-wei, Wang Hong, Song Fang

Abstract excerpt

The homozygous loss of the survival motor neuron 1 (SMN1) gene is the primary cause of spinal muscular atrophy (SMA), a neuromuscular degenerative disease. A genetically similar gene, SMN2, which is not functionally equivalent in all SMA patients, modifies the clinical SMA phenotypes. We analyzed the methylation levels of 4 CpG islands (CGIs) in SMN2 in 35 Chinese children with SMA by MassARRAY. We found that...

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Source

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Identifiers

PMID: 26739529
DOI: 10.1631/jzus.B1500072
PMCID: PMC4710843

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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