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Article

Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.

Annals of the Academy of Medicine, Singapore - 1 Feb 2009

Hasanzad Mandana, Golkar Zahra, Kariminejad Roxana, Hadavi Valeh, Almadani Navid, Afroozan Fariba, Salahshurifar Iman, Shafeghati Yousef, Kahrizi Kimia, Najmabadi Hossein

Abstract excerpt

INTRODUCTION: Spinal muscular atrophy (SMA) is a common neuromuscular disorder with progressive paralysis caused by the loss of alpha-motor neurons in the spinal cord. The survival motor neuron (SMN) protein is encoded by 2 genes, SMN1 and SMN2. The most frequent mutation is the biallelic deletion of exon 7 of the SMN1 gene. In SMA, SMN2 cannot compensate for the loss of SMN1, due to the exclusion of exon 7. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19271042

Genes

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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