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Article

Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.

Human genetics - 1 Mar 2001

Cuscó I, Barceló M J, del Rio E, Martín Y, Hernández-Chico C, Bussaglia E, Baiget M, Tizzano E F

Abstract excerpt

Autosomal recessive spinal muscular atrophy (SMA) is classified, by age of onset and maximal motor milestones achieved, into type I (severe form), type II (intermediate form) and type III (mild/moderate form). SMA is caused by mutations in the survival motor neuron telomeric gene (SMN1) and a centromeric functional copy of this gene (SMN2) exists, both genes being located at 5q13. Homozygous deletion of exons 7...

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Source

Identifiers

PMID: 11354634
DOI: 10.1007/s004390000452

Genes

SMN2
SMN1
NAIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.PMID 11354634Read ↗

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Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene.Semantic proximity Read ↗

[An analysis of chimeric SMN genes--new possibilities in the study of the molecular genetic nature of mutations and in the diagnosis of spinal muscular atrophy (SMA)].Semantic proximity Read ↗

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

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype.Semantic proximity Read ↗

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A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.Semantic proximity Read ↗

Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neuron diseaseSemantic proximity Read ↗

Unusual molecular findings in autosomal recessive spinal muscular atrophy.Semantic proximity Read ↗

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