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Article

Unusual molecular findings in autosomal recessive spinal muscular atrophy.

Journal of medical genetics - 1 Jun 1996

Matthijs G, Schollen E, Legius E, Devriendt K, Goemans N, Kayserili H, Apäk M Y, Cassiman J J

Abstract excerpt

All three types of autosomal recessive spinal muscular atrophy map to chromosome 5q11.2-q13.3 and are associated with deletions or mutations of the SMN (survival motor neurone) gene. The availability of a test to distinguish between the SMN gene and its nearly identical centromeric copy cBCD541 allows molecular diagnosis. We have analysed patients from 24 Belgian and 34 Turkish families for the presence or...

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Share to Gene Deletion
Share to Genes, Recessive
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

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Identifiers

PMID: 8782046
DOI: 10.1136/jmg.33.6.469
PMCID: PMC1050632

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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Unusual molecular findings in autosomal recessive spinal muscular atrophy.PMID 8782046Read ↗

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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 ↗

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

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.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 ↗

SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity.Semantic proximity Read ↗

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counsellingSemantic proximity Read ↗

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

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

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension.Semantic proximity Read ↗

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