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Article

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.

Neuromuscular disorders : NMD - 1 Jun 2011

Bernal Sara, Also-Rallo Eva, Martínez-Hernández Rebeca, Alías Laura, Rodríguez-Alvarez Francisco Javier, Millán José M, Hernández-Chico Concepción, Baiget Montserrat, Tizzano Eduardo F

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by loss or mutations of the survival motor neuron 1 gene (SMN1). Its highly homologous copy, SMN2, is present in all SMA cases and is a phenotypic modifier. There are cases where asymptomatic siblings of typical SMA patients possess a homozygous deletion of SMN1 just like their symptomatic brothers or sisters. Plastin 3 (PLS3) when over expressed in lymphoblasts from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21546251
DOI: 10.1016/j.nmd.2011.03.009

Genes

PLS3
SMN1
SMN2

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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