Document Detail

Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII:C gene.
MedLine Citation:
PMID:  1686773     Owner:  NLM     Status:  MEDLINE    
In a large German family with Emery-Dreifuss muscular dystrophy (EDMD) linkage analysis was performed using the factor IX gene (F9), the factor VIII:C gene (F8), the anonymous DNA probe DXS52, and DXS15 as markers. Tight linkage was found between the EDMD locus and the F8 probe (Zmax = 1.19; theta max = 0.00), DXS15 (Zmax = 1.75; theta max = 0.00) and DXS52 (Zmax = 2.26; theta max = 0.00). Weak linkage was found to F9 (Zmax = 0.02; theta max = 0.43). The data from the literature and our results suggest that the gene locus of EDMD is close to F8 (confidence interval theta = 0-0.07). The new linkage data are useful for carrier detection and diagnosis of EDMD patients before onset of major clinical signs.
M Wehnert; G Machill; T Grimm; M Janka; R Camman; W Schröder; F H Herrmann
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Human heredity     Volume:  41     ISSN:  0001-5652     ISO Abbreviation:  Hum. Hered.     Publication Date:  1991  
Date Detail:
Created Date:  1992-04-13     Completed Date:  1992-04-13     Revised Date:  2004-11-18    
Medline Journal Info:
Nlm Unique ID:  0200525     Medline TA:  Hum Hered     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  364-9     Citation Subset:  IM    
Institute of Medical Genetics, Ernst-Moritz-Arndt University of Greifswald, FRG.
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MeSH Terms
Cardiomyopathies / complications,  genetics
Factor VIII / genetics*
Genes, Recessive
Genetic Markers
Linkage (Genetics)*
Muscular Dystrophies / complications,  genetics*
Muscular Dystrophy, Emery-Dreifuss
Polymorphism, Restriction Fragment Length
X Chromosome*
Reg. No./Substance:
0/Genetic Markers; 9001-27-8/Factor VIII

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