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Article

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

Lancet (London, England) - 4 Aug 1990

Melki J, Sheth P, Abdelhak S, Burlet P, Bachelot M F, Lathrop M G, Frezal J, Munnich A

Abstract excerpt

Linkage analysis in twenty-five families with acute (type I) spinal muscular atrophy (SMA) showed that the mutant gene responsible for the disorder is tightly linked to the D5S39 locus. The mutation(s) causing the intermediate (type II) and juvenile chronic (type III) forms of SMA were also mapped to DNA marker D5S39 on chromosome 5 (5q12-q14). Thus, the three forms, which have been differentiated clinically on...

Topics

Acute Disease
Age Factors
Chi-Square Distribution
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 5
DNA Probes
Humans
Infant
Lod Score
Muscular Atrophy, Spinal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Recombination, Genetic

Spinal Muscular Atrophies of Childhood

Source

Identifiers

PMID: 1973971
DOI: 10.1016/0140-6736(90)91803-i

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1973971-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.PMID 1973971Read ↗

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