Document Detail


Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families.
MedLine Citation:
PMID:  1427826     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Chronic childhood-onset spinal muscular atrophy (SMA) is, after Duchenne muscular dystrophy, the most common neuromuscular disorder in childhood. Recent linkage analyses have mapped this disease to 5q12-5q14. We show that chronic SMA (Types II and III) is tightly linked to the marker locus D5S39 (Zmax = 5.47 at theta = 0.02) in eight French Canadian families. In contrast to previously published results, we do not observe close linkage between chronic SMA and D5S6 (Zmax = 0.34 at theta = 0.18) or D5S78 (Zmax = 0.25 at theta = 0.21). Last, we present a family that appears to be discordant for this localization but may represent the first example of an incompletely penetrant individual.
Authors:
L R Simard; M Vanasse; C Rochette; K Morgan; B Lemieux; S B Melançon; D Labuda
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genomics     Volume:  14     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1992 Sep 
Date Detail:
Created Date:  1992-12-22     Completed Date:  1992-12-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  188-90     Citation Subset:  IM    
Affiliation:
Génétique Médicale, Centre de Recherche, Hôpital Sainte-Justine, Université de Montréal, Québec, Canada.
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MeSH Terms
Descriptor/Qualifier:
Canada
Chromosomes, Human, Pair 5
Chronic Disease
Female
France / ethnology
Genetic Markers
Humans
Linkage (Genetics)*
Lod Score
Male
Muscular Atrophy, Spinal / genetics*
Pedigree
Chemical
Reg. No./Substance:
0/Genetic Markers

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


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