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Article

Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.

American journal of human genetics - 1 May 1992

Müller B, Melki J, Burlet P, Clerget-Darpoux F

Abstract excerpt

Proximal spinal muscular atrophy (SMA) is a group of progressive muscular diseases recently mapped to chromosome 5q. SMA is usually classified into types I-III, and there are cases of two types of SMA in the same sibship. Becker and others later proposed that these sibships might be due to the existence of several alleles at the same locus predisposing to the different forms of the disease. In a sample of four...

Topics

Alleles
Blotting, Southern
Chromosomes, Human, Pair 5
Family Health
Female
Genetic Linkage
Homozygote
Humans
Male
Muscular Atrophy, Spinal
Pedigree

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PMID: 1570842
PMCID: PMC1682600

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1570842-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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