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Article

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

Human genetics - 1 Dec 2002

Ogino Shuji, Wilson Robert B

Abstract excerpt

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50. Because of gene deletion or conversion, SMN1 exon 7 is homozygously absent in approximately 94% of patients with clinically typical SMA. Approximately 30 small intragenic SMN1 mutations have also been described. These...

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Source

Identifiers

PMID: 12436240
DOI: 10.1007/s00439-002-0828-x

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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