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Article

Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III.

BMC medical genetics - 15 Jul 2011

Zheleznyakova Galina Yu, Kiselev Anton V, Vakharlovsky Viktor G, Rask-Andersen Mathias, Chavan Rohit, Egorova Anna A, Schiöth Helgi B, Baranov Vladislav S

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA type I, II and III) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (SMN1). SMN2 is a centromeric copy gene that has been characterized as a major modifier of SMA severity. SMA type I patients have one or two SMN2 copies while most SMA type II patients carry three SMN2 copies and SMA III patients have three or four...

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Source

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Identifiers

PMID: 21762474
DOI: 10.1186/1471-2350-12-96
PMCID: PMC3146920

Genes

SMN2
SMN1

Provenance

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

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