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

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.

Nature - 19 Apr 1990

Melki J, Abdelhak S, Sheth P, Bachelot M F, Burlet P, Marcadet A, Aicardi J, Barois A, Carriere J P, Fardeau M

Abstract excerpt

Proximal spinal muscular atrophies represent the second most common fatal, autosomal recessive disorder after cystic fibrosis. The childhood form is classically subdivided into three groups: acute Werdnig-Hoffmann (type I), intermediate Werdnig-Hoffmann disease (type II) and Kugelberg-Welander disease (type III). These different clinical forms have previously been attributed to either genetic heterogeneity or...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 5
DNA Probes
Genetic Linkage
Genetic Markers
Humans
Muscular Atrophy, Spinal
Mutation
Pedigree
Polymorphism, Restriction Fragment Length
Spinal Muscular Atrophies of Childhood

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1970420
DOI: 10.1038/344767a0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1970420-2026-08-29.1. 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.

0

discussions

0

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

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.PMID 1970420Read ↗

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3Semantic proximity Read ↗

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.Semantic proximity Read ↗

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13Semantic proximity Read ↗

Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy.Semantic proximity Read ↗

Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.Semantic proximity Read ↗

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

Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter.Semantic proximity Read ↗

The use of chromosome 5q markers for confirming the diagnosis of proximal spinal muscular atrophy.Semantic proximity Read ↗

A novel syndrome of episodic muscle weakness maps to xp22.3.Semantic proximity Read ↗

Linkage analysis of spinal muscular atrophy.Semantic proximity Read ↗

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.Semantic proximity Read ↗

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.Semantic proximity Read ↗

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