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Article

Spinal muscular atrophy: from gene to therapy.

Seminars in pediatric neurology - 1 Jun 2006

Wirth Brunhilde, Brichta Lars, Hahnen Eric

Abstract excerpt

The molecular basis of spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disorder, is the homozygous loss of the survival motor neuron gene 1 (SMN1). A nearly identical copy of the SMN1 gene, called SMN2, modulates the disease severity. The functional difference between both gen...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17027862
DOI: 10.1016/j.spen.2006.06.008

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17027862-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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