Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.

doi:10.1093/hmg/4.8.1273

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.

Human molecular genetics - 1 Aug 1995

Wirth B, Hahnen E, Morgan K, DiDonato C J, Dadze A, Rudnik-Schöneborn S, Simard L R, Zerres K, Burghes A H

Abstract excerpt

The candidate region for spinal muscular atrophy (SMA) has been defined as a 750 kb interval on 5q13. In this study, we performed allelic association studies in 154 German SMA families with the multicopy markers Ag1-CA (D5S1556); C212 (D5F149S1/S2) and correlated genotype data with deletion of candidate genes. Both multicopy markers recognize 0-3 alleles pro chromosome. Deletions were detected for all copies of...

Topics

Alleles
Chromosomes, Human, Pair 5
DNA, Complementary
Female
Gene Deletion
Genes, Recessive
Genetic Markers
Genotype
Haplotypes
Heterozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Models, Genetic

Muscular Dystrophies

Pedigree

Phenotype

Spinal Cord Diseases

Source

Open in PubMed

Identifiers

PMID: 7581364
DOI: 10.1093/hmg/4.8.1273

Genes

NAIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7581364-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.PMID 7581364Read ↗

Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.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 ↗

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.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 ↗

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.Semantic proximity Read ↗

Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India.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 ↗

Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes.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 ↗

Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.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 ↗

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.