Document Detail

A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome.
MedLine Citation:
PMID:  2895584     Owner:  NLM     Status:  MEDLINE    
We report on two sisters with a history of muscle weakness and an electromyogram (EMG) diagnosis of Kugelberg-Welander syndrome (KWS) or juvenile spinal muscular atrophy. A half-brother to these women was diagnosed to have Duchenne muscular dystrophy (DMD). Using molecular probes, we identified a deletion within Xp21 in this isolated case of DMD. Sequences detected by pXJ1.1 are deleted, while fragments detected by pERT87 are intact. Both of these probes are derived from the DMD locus. We have shown that the affected sisters share with their half-brother DNA markers that are linked to the DMD gene and inherited from their maternal grandfather. Dosage analysis of Southern blots show monosomy for pXJ1.1, which has allowed us to determine carrier status within this family and to show that the half-sisters are manifesting DMD carriers.
S Wood; R J Shukin; B C McGillivray; P N Ray; R G Worton
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  29     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1988 Feb 
Date Detail:
Created Date:  1988-05-05     Completed Date:  1988-05-05     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  419-23     Citation Subset:  IM    
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
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MeSH Terms
Chromosome Deletion
Muscular Diseases / genetics*
Muscular Dystrophies / genetics*
Polymorphism, Restriction Fragment Length
Sex Chromosome Aberrations / genetics*
X Chromosome*

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