Document Detail


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.
MedLine Citation:
PMID:  1570842     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
B Müller; J Melki; P Burlet; F Clerget-Darpoux
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of human genetics     Volume:  50     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1992 May 
Date Detail:
Created Date:  1992-05-26     Completed Date:  1992-05-26     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  892-5     Citation Subset:  IM    
Affiliation:
Abteilung für Pädiatrische Genetik und Pränatale Diagnostik der Kinderpoliklinik, Munich, Germany.
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MeSH Terms
Descriptor/Qualifier:
Alleles*
Blotting, Southern
Chromosomes, Human, Pair 5*
Family Health
Female
Homozygote
Humans
Linkage (Genetics) / genetics
Male
Muscular Atrophy, Spinal / genetics*
Pedigree
Phenotype
Comments/Corrections
Comment In:
Am J Hum Genet. 1992 May;50(5):887-91   [PMID:  1570841 ]

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