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Article

Perspectives and diagnostic considerations in spinal muscular atrophy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2010

Prior Thomas W

Abstract excerpt

Spinal muscular atrophy is an autosomal recessive neurodegenerative disease and the most common genetic cause of infant mortality. The disease results in motor neuron loss and skeletal muscle atrophy. Spinal muscular atrophy is caused by mutations in the telomeric copy of the survival motor neuron 1 (SMN1) gene, but all patients retain a centromeric copy of the gene, SMN2. In the majority of cases, the disease...

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

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Source

Identifiers

PMID: 20057317
DOI: 10.1097/GIM.0b013e3181c5e713

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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