Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12
| Autor: | Kemal Azlbi, Luclen Bachner, Jacques S.Beckmann, Kllchlro Matsumura, Elhadl Hamouda, Mallka Chaouch, Athmane Chaouch, Rachlda Alt-Ouarab, Alaln Vlgnal, Jean Welssenbach, Marie-Claude Vinet, France Leturcq, Huguette Collln, Fernando M.S.Tomé, Abderrezak Reghis, Michel Fardeau, Kevin P.Campbell, Jean-Claude Kaplan |
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| Rok vydání: | 1993 |
| Předmět: |
Male
medicine.medical_specialty Genetic Linkage Genes Recessive Muscular Dystrophies Consanguinity Gene mapping Genetic linkage Sarcoglycans Internal medicine Genetics medicine Humans Muscular dystrophy Child Molecular Biology Genetics (clinical) Membrane Glycoproteins Chromosomes Human Pair 13 biology Gene map Genetic heterogeneity Chromosome Mapping Chromosome General Medicine medicine.disease Immunohistochemistry Pedigree Cytoskeletal Proteins Phenotype Endocrinology biology.protein Female Dystrophin Sarcoglycanopathies |
| Zdroj: | Human Molecular Genetics. 2:1423-1428 |
| ISSN: | 1460-2083 0964-6906 |
| DOI: | 10.1093/hmg/2.9.1423 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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