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    
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.
L R Simard; M Vanasse; C Rochette; K Morgan; B Lemieux; S B Melançon; D Labuda
Related Documents :
12445216 - A missense mutation in cdh3, encoding p-cadherin, causes hypotrichosis with juvenile ma...
306756 - Familial foveal retinoschisis associated with a rod-cone dystrophy.
3162536 - Mild and severe muscular dystrophy associated with deletions in xp21 of the human x chr...
1303286 - Linkage of tunisian autosomal recessive duchenne-like muscular dystrophy to the pericen...
19477626 - X inactivation and the complexities of silencing a sex chromosome.
8500796 - Duplication of the short arm of the x chromosome in mother and daughter.
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    
Génétique Médicale, Centre de Recherche, Hôpital Sainte-Justine, Université de Montréal, Québec, Canada.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Chromosomes, Human, Pair 5
Chronic Disease
France / ethnology
Genetic Markers
Linkage (Genetics)*
Lod Score
Muscular Atrophy, Spinal / genetics*
Reg. No./Substance:
0/Genetic Markers

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

Previous Document:  Chromosomal assignment of human YAC clones by fluorescence in situ hybridization: use of single-yeas...
Next Document:  Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa fa...