Document Detail

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.
MedLine Citation:
PMID:  8242065     Owner:  NLM     Status:  MEDLINE    
We have recently demonstrated the specific deficiency for the 50 kDa dystrophin-associated glycoprotein (50DAG) in Algerian patients afflicted with severe childhood autosomal recessive muscular dystrophy with DMD-like phenotype (SCARMD). A similar disease affecting Tunisian patients was linked to chromosome 13q but the status of the 50DAG was not investigated. Here we show by linkage analysis of Algerian families that the genetic defect which leads, either directly or indirectly, to the deficiency of the 50DAG in skeletal muscle is localized to the proximal part of chromosome 13q. We have not found any evidence of genetic heterogeneity among the thirteen families studied. It remains to be demonstrated whether the 50DAG gene maps at 13q12, and to determine if it is mutated in this disease.
K Azibi; L Bachner; J S Beckmann; K Matsumura; E Hamouda; M Chaouch; A Chaouch; R Ait-Ouarab; A Vignal; J Weissenbach
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human molecular genetics     Volume:  2     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1993 Sep 
Date Detail:
Created Date:  1993-12-30     Completed Date:  1993-12-30     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1423-8     Citation Subset:  IM    
Hôpital Bologhine, CHU Alger-Ouest, Algeria.
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MeSH Terms
Chromosome Mapping
Chromosomes, Human, Pair 13*
Cytoskeletal Proteins / deficiency,  genetics*
Genes, Recessive
Linkage (Genetics)
Membrane Glycoproteins / deficiency,  genetics*
Muscular Dystrophies / genetics*,  metabolism
Reg. No./Substance:
0/Cytoskeletal Proteins; 0/Membrane Glycoproteins; 0/Sarcoglycans

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