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Article

Newborn and carrier screening for spinal muscular atrophy.

American journal of medical genetics. Part A - 1 Jul 2010

Prior Thomas W, Snyder Pamela J, Rink Britton D, Pearl Dennis K, Pyatt Robert E, Mihal David C, Conlan Todd, Schmalz Betsy, Montgomery Laura, Ziegler Katie, Noonan Carolee, Hashimoto Sayaka, Garner Shannon

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 homozygous absence of SMN1 exon 7 has been observed in the majority of patients and is being utilized as a reliable and sensitive SMA diagnostic test. Treatment and prevention of SMA are complementary responses to...

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Identifiers

PMID: 20578137
DOI: 10.1002/ajmg.a.33474

Genes

SMN1

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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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