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Article

Spinal muscular atrophy: newborn and carrier screening.

Obstetrics and gynecology clinics of North America - 1 Mar 2010

Prior Thomas W

Abstract excerpt

Spinal muscular atrophy (SMA) is a common autosomal-recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. The disease is characterized by progressive symmetric muscle weakness resulting from the degeneration...

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Share to Neonatal Screening
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Survival of Motor Neuron 1 Protein

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Source

Identifiers

PMID: 20494255
DOI: 10.1016/j.ogc.2010.03.001

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20494255-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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