Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

Détails

ID Serval
serval:BIB_52502DBEA7E4
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12
Périodique
Human Molecular Genetics
Auteur(s)
Azibi  K., Bachner  L., Beckmann  J. S., Matsumura  K., Hamouda  E., Chaouch  M., Chaouch  A., Ait-Ouarab  R., Vignal  A., Weissenbach  J., Vinet  M.C., Leturcq  F., Collin  H., Tomme  F.M.S., Reghis  A., Fardeau  M., Campbell  K.P., Kaplan  J.C.
ISSN
0964-6906 (Print)
Statut éditorial
Publié
Date de publication
09/1993
Volume
2
Numéro
9
Pages
1423-8
Notes
Journal Article Research Support, Non-U.S. Gov't --- Old month value: Sep
Résumé
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.
Mots-clé
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
Pubmed
Web of science
Création de la notice
25/01/2008 17:17
Dernière modification de la notice
03/03/2018 17:13
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