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Article

Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.

Current protocols in human genetics - 1 Jan 2016

Prior Thomas W, Nagan Narasimhan

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease and the most common genetic cause of infant mortality, affecting ∼1 in 10,000 live births. The disease is characterized by progressive symmetrical muscle weakness resulting from the degeneration and loss of anterior horn cells in the spinal cord and brain stem nuclei. The disease is classified on the basis of age of onset and...

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

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Share to Polymorphism, Restriction Fragment Length

Share to Survival of Motor Neuron 1 Protein

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Source

Identifiers

PMID: 26724723
DOI: 10.1002/0471142905.hg0927s88

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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