Document Detail

Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases.
MedLine Citation:
PMID:  8232958     Owner:  NLM     Status:  MEDLINE    
A gene for facioscapulohumeral muscular dystrophy (FSHD) has been linked to chromosome 4q35 in families with the disease. We have used recently characterized p13E-11/D4S809 probes that map near or within the FSHD gene to investigate eight sporadic cases of FSHD whose parents showed no signs of disease. Probe p13E-11/D4S809 detected novel DNA fragments in seven of the eight sporadic FSHD individuals and not in the parents, substantiating the clinical diagnosis. Two sisters with FSHD whose parents were clinically normal had a novel DNA fragment suggestive of germline mosaicism. Probe p13E-11/D4S809 is potentially helpful in genetic counseling. However, because this probe may also detect a locus unlinked to chromosome 4, because of possible genetic heterogeneity in FSHD, and because of the presence of recombinants in autosomal dominantly inherited families, closer markers or gene definition will be needed for accurate genetic counseling in other situations.
R C Griggs; R Tawil; D Storvick; J R Mendell; M R Altherr
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Neurology     Volume:  43     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1993 Nov 
Date Detail:
Created Date:  1993-12-20     Completed Date:  1993-12-20     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  2369-72     Citation Subset:  AIM; IM    
Department of Neurology, School of Medicine and Dentistry, University of Rochester, NY 14642.
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MeSH Terms
Blotting, Southern
Chromosomes, Human, Pair 4*
DNA / analysis
Genetic Markers
Muscular Dystrophies / genetics*
Grant Support
Reg. No./Substance:
0/Genetic Markers; 9007-49-2/DNA

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