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Article

Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity.

European journal of human genetics : EJHG - 1 Sept 2013

Zheleznyakova Galina Y, Voisin Sarah, Kiselev Anton V, Sällman Almén Markus, Xavier Miguel J, Maretina Marianna A, Tishchenko Lyudmila I, Fredriksson Robert, Baranov Vladislav S, Schiöth Helgi B

Abstract excerpt

Spinal muscular atrophy (SMA) is a monogenic disorder that is subdivided into four different types and caused by survival motor neuron gene 1 (SMN1) deletion. Discordant cases of SMA suggest that there exist additional severity modifying factors, apart from the SMN2 gene copy number. Here we performed the first genome-wide methylation profiling of SMA patients and healthy individuals to study the association of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23299920
DOI: 10.1038/ejhg.2012.293
PMCID: PMC3746269

Genes

ARHGAP22
CHML
SMN1
SMN2

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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