Discover Community Create You

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

Article

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

1 Sept 1996

Abstract excerpt

The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene nor evidence for linkage to chromosome 5q13 were found in the other patients. Hitherto, arthrogryposis was regarded as an exclusion criterion in SMA. Our data strongly suggest that AMC of neurogenic origin is...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital Anomalies and Fetal Surgery
Share to Neurogenetic and Muscular Disorders Research
Share to RNA modifications and cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8787675
DOI: 10.1172/jci118895

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.PMID 8787675Read ↗

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

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 ↗

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

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.Semantic proximity Read ↗

Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region.Semantic proximity Read ↗

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

Survival motor neuron (SMN) polymorphism in relation to congenital arthrogryposis in two Piedmont calves (piemontese).Semantic proximity Read ↗

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

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryosSemantic proximity Read ↗

High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.Semantic proximity Read ↗

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