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Article

Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.

Journal of child neurology - 1 Apr 2015

Ganji Hamid, Nouri Nayereh, Salehi Mansoor, Aryani Omid, Houshmand Massoud, Basiri Keivan, Fazel-Najafabadi Esmat, Sedghi Maryam

Abstract excerpt

Proximal spinal muscular atrophy is an autosomal recessive disorder characterized by symmetrical muscle weakness due to degeneration of alpha motor neurons in the spinal cord. Homozygous deletions in the SMN1 have been reported in more than 90% of spinal muscular atrophy cases. Compound heterozygous patients account for approximately 4% of spinal muscular atrophy cases. In this study, we performed a quantitative...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24563475
DOI: 10.1177/0883073814521297

Genes

SMN1

Variants

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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