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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 and loss of anterior horn cells in the spinal cord and brainstem nuclei. The management of SMA involves supportive and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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