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    
Abstract/OtherAbstract:
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.
Authors:
K Azibi; L Bachner; J S Beckmann; K Matsumura; E Hamouda; M Chaouch; A Chaouch; R Ait-Ouarab; A Vignal; J Weissenbach
Related Documents :
16575835 - The expanding phenotype of pomt1 mutations: from walker-warburg syndrome to congenital ...
15452315 - Lama2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy.
10587585 - Nuclear lamin a/c r482q mutation in canadian kindreds with dunnigan-type familial parti...
16353285 - Preimplantation genetic diagnosis (pgd) for duchenne muscular dystrophy (dmd) by triple...
19556775 - Structural analyses of chromosomes and their constituent proteins.
18943055 - Origin and distribution of cr2, a gene for resistance to white pine blister rust in nat...
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    
Affiliation:
Hôpital Bologhine, CHU Alger-Ouest, Algeria.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Child
Chromosome Mapping
Chromosomes, Human, Pair 13*
Consanguinity
Cytoskeletal Proteins / deficiency,  genetics*
Female
Genes, Recessive
Humans
Immunohistochemistry
Linkage (Genetics)
Male
Membrane Glycoproteins / deficiency,  genetics*
Muscular Dystrophies / genetics*,  metabolism
Pedigree
Phenotype
Sarcoglycans
Chemical
Reg. No./Substance:
0/Cytoskeletal Proteins; 0/Membrane Glycoproteins; 0/Sarcoglycans

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


Previous Document:  Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange ...
Next Document:  Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding s...