Document Detail


Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.
MedLine Citation:
PMID:  1973971     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 the basis of age of onset and clinical course, are most probably due to different mutations at a single locus on chromosome 5. Prenatal diagnosis of SMA type I will now be possible.
Authors:
J Melki; P Sheth; S Abdelhak; P Burlet; M F Bachelot; M G Lathrop; J Frezal; A Munnich
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Lancet     Volume:  336     ISSN:  0140-6736     ISO Abbreviation:  Lancet     Publication Date:  1990 Aug 
Date Detail:
Created Date:  1990-09-05     Completed Date:  1990-09-05     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  2985213R     Medline TA:  Lancet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  271-3     Citation Subset:  AIM; IM    
Affiliation:
INSERM Unité 12, Hôpital des Enfants Malades, Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Acute Disease
Age Factors
Chi-Square Distribution
Child, Preschool
Chromosome Mapping*
Chromosomes, Human, Pair 5*
DNA Probes
Humans
Infant
Lod Score
Muscular Atrophy, Spinal / classification,  genetics*,  mortality
Mutation*
Recombination, Genetic
Spinal Muscular Atrophies of Childhood / genetics
Chemical
Reg. No./Substance:
0/DNA Probes
Comments/Corrections
Comment In:
Lancet. 1990 Sep 22;336(8717):749-50   [PMID:  1975919 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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