Document Detail


Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.
MedLine Citation:
PMID:  1303286     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Autosomal recessive Duchenne-like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbred DLMD families from Tunisia were analysed for chromosomal linkage using 135 polymorphic microsatellite markers. A significant lod score of z = 9.15 at theta = 0.03 was found with the 13q12 locus D13S115. Two additional 13q12 markers, D13S143 and D13S120, also gave significant lod scores. Therefore, the primary DLMD defect gene lies in the pericentrometric region of chromosome 13q.
Authors:
K Ben Othmane; M Ben Hamida; M A Pericak-Vance; C Ben Hamida; S Blel; S C Carter; A M Bowcock; K Petruhkin; T C Gilliam; A D Roses
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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:  Nature genetics     Volume:  2     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1992 Dec 
Date Detail:
Created Date:  1993-06-23     Completed Date:  1993-06-23     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  315-7     Citation Subset:  IM    
Affiliation:
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
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MeSH Terms
Descriptor/Qualifier:
Centromere / ultrastructure
Chromosome Mapping
Chromosomes, Human, Pair 13* / ultrastructure
Consanguinity
DNA, Satellite / genetics
Female
Genes, Recessive
Genetic Markers
Humans
Linkage (Genetics)*
Male
Muscular Dystrophies / genetics*
Pedigree
Phenotype
Polymorphism, Genetic
Tunisia
Chemical
Reg. No./Substance:
0/DNA, Satellite; 0/Genetic Markers

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


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