Document Detail


Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome.
MedLine Citation:
PMID:  3162536     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We have analysed over 300 patients suffering from Duchenne or Becker muscular dystrophy (DMD or BMD). Deletions have been characterised which encompass either the pERT87 (DXS164) locus only, the XJ1.1 (DXS206) and HIP25 loci only, or all three loci. These loci have been shown to lie within the DMD region covering several hundred kilobases (kb) of DNA. One mildly affected BMD patient possesses a deletion of at least 110 kb including exons of the DMD gene. Other patients with similar exon deletions, or smaller deletions, show the more severe phenotype typical of DMD. We conclude from these studies that the severity of the clinical phenotype cannot be explained on the basis of the size of the deletion. We discuss this in the context of candidate gene sequences.
Authors:
K E Davies; T J Smith; S Bundey; A P Read; T Flint; M Bell; A Speer
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  25     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1988 Jan 
Date Detail:
Created Date:  1988-04-25     Completed Date:  1988-04-25     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  9-13     Citation Subset:  IM    
Affiliation:
Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Deletion*
Female
Genetic Markers
Humans
Linkage (Genetics)*
Male
Muscular Dystrophies / genetics*
Pedigree
X Chromosome*
Grant Support
ID/Acronym/Agency:
//Wellcome Trust
Chemical
Reg. No./Substance:
0/Genetic Markers
Comments/Corrections

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


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