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Article

Spinal muscular atrophy.

Handbook of clinical neurology - 1 Jan 2018

Arnold Eveline S, Fischbeck Kenneth H

Abstract excerpt

Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. The SMN protein plays a critical role in spliceosome assembly and may have other cellular functions, such as mRNA transport. Cell culture and animal models have helped to define the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29478602
DOI: 10.1016/B978-0-444-64076-5.00038-7

Genes

SMN1
SMN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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