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Article

Beyond SMN1 mutation: environmental predispositions and epigenetic contributors to phenotypic variability and disease severity in spinal muscular atrophy.

Neuroscience - 4 Aug 2026

Gopi Sanjay, Prethiba S, Chandhru M, Karthick Raja Namasivayam S, Arockiaraj Jesu

Abstract excerpt

Spinal Muscular Atrophy (SMA) is an autosomal recessive neurodegenerative disorder caused by loss-of-function mutations in the survival motor neuron 1 gene (SMN1), and with SMN2 being a known principal modifier yet significant phenotypic variability exists even among individuals sharing identical genetic backgrounds, including siblings, suggesting that factors beyond SMN2 copy number contribute substantially to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42105903
DOI: 10.1016/j.neuroscience.2026.05.008

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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