ArticleAmerican journal of human genetics1992
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.
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 19 citations in OpenAlex.
- What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.International journal of molecular sciences · 2021Article
- Nanopore Fabrication and Application as Biosensors in Neurodegenerative Diseases.Critical reviews in biomedical engineering · 2020Review
- When is a deletion not a deletion? When it is converted.American journal of human genetics · 1997Review
- Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.American journal of human genetics · 1997Article
- The genetic contribution to the phenotype.Human genetics · 1995Review
- Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.American journal of human genetics · 1994Article
- Chronic childhood spinal muscular atrophy in Germany (West-Thüringen)--an epidemiological study.Human genetics · 1994Article
- Linkage mapping of the spinal muscular atrophy gene.Human genetics · 1994Article
- Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA).Human genetics · 1993Article
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4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 sibships in which both SMA type II and SMA type III occur, this hypothesis was clearly rejected for the SMA locus on 5q, by using information on the segregation of linked markers (P less than .001). Thus the difference between SMA type II and SMA type III is not due to different alleles at the SMA locus on 5q. This finding is suggestive of an involvement of other factors, genetic or environmental, in the determination of disease severity in SMA.
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1570842PMC1682600W246548966What OpenQuestion holds
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