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Article

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease.

Neuron - 22 Dec 2005

Monani Umrao R

Abstract excerpt

Spinal muscular atrophy (SMA) is a neurodegenerative disease in humans and the most common genetic cause of infant mortality. The disease results in motor neuron loss and skeletal muscle atrophy. Despite a range of disease phenotypes, SMA is caused by mutations in a single gene, the Survival of Motor Neuron 1 (SMN1) gene. Recent advances have shed light on functions of the protein product of this gene and the...

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Source

Identifiers

PMID: 16364894
DOI: 10.1016/j.neuron.2005.12.001

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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