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Article

SMN1 gene duplications are more frequent in patients with progressive muscular atrophy.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Sept 2013

Kuźma-Kozakiewicz Magdalena, Jędrzejowska Maria, Kaźmierczak Beata

Abstract excerpt

Survival Motor Neuron 1 (SMN1) is a causative gene for autosomal recessive infantile and juvenile proximal spinal muscular atrophy. SMN1 duplications have recently been found to increase susceptibility to amyotrophic lateral sclerosis. The role of centromeric SMN copy (SMN2) has been postulated in progressive muscular atrophy (PMA). The aim of this study was to analyse the SMN1 and SMN2 copy number variations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23477310
DOI: 10.3109/21678421.2013.771367

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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