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Article

Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.

Neuromuscular disorders : NMD - 1 Jun 2007

Zapletalová Eva, Hedvicáková Petra, Kozák Libor, Vondrácek Petr, Gaillyová Renata, Maríková Tat'ána, Kalina Zdenek, Jüttnerová Vera, Fajkus Jirí, Fajkusová Lenka

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by homozygous deletion of the SMN1 gene in approximately 96% of cases. Four percent of SMA patients have a combination of the deletion or conversion on one allele and an intragenic mutation on the second one. We performed analysis of point mutations in a se...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17475491
DOI: 10.1016/j.nmd.2007.03.003

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17475491-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.PMID 17475491Read ↗

Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype.Semantic proximity Read ↗

Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype.Semantic proximity Read ↗

Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.Semantic proximity Read ↗

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.Semantic proximity Read ↗

[Identification of T274I mutation in the SMN1 gene in a patient with spinal muscular atrophy].Semantic proximity Read ↗

Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR.Semantic proximity Read ↗

Genetic testing and risk assessment for spinal muscular atrophy (SMA).Semantic proximity Read ↗

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.Semantic proximity Read ↗

Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients.Semantic proximity Read ↗

Spinal muscular atrophy carriers with two SMN1 copies.Semantic proximity Read ↗

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.Semantic proximity Read ↗

Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy.Semantic proximity Read ↗

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