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Article

Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype.

Neuromuscular disorders : NMD - 1 May 1997

Talbot K, Rodrigues N R, Ignatius J, Muntoni F, Davies K E

Abstract excerpt

Autosomal recessive proximal spinal muscular atrophy (SMA) is a disease of motor neuron death and a common cause of morbidity in childhood. It has been mapped to 5q13 and shown to be associated with deletions in a gene which has been called the survival motor neuron (SMN) gene. SMN exists in two copies in 5q13 and deletions in exon 7 and 8 of the telomeric copy (SMNtel) occur in over 90% of patients regardless of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 9185185
DOI: 10.1016/s0960-8966(97)00450-1

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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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Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype.PMID 9185185Read ↗

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy.Semantic proximity Read ↗

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)Semantic proximity Read ↗

Gene conversion events in adult-onset spinal muscular atrophy.Semantic proximity Read ↗

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

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).Semantic proximity Read ↗

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.Semantic proximity Read ↗

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophySemantic proximity Read ↗

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?Semantic proximity Read ↗

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.Semantic proximity Read ↗

Prenatal onset spinal muscular atrophy.Semantic proximity Read ↗

Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesisSemantic proximity Read ↗

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.Semantic proximity Read ↗

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