Article
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.
Human molecular genetics - 1 Sept 1993
Azibi K, Bachner L, Beckmann J S, Matsumura K, Hamouda E, Chaouch M, Chaouch A, Ait-Ouarab R, Vignal A, Weissenbach J
Abstract excerpt
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...
Topics
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 13
- Consanguinity
- Cytoskeletal Proteins
- Female
- Genes, Recessive
- Genetic Linkage
- Humans
- Immunohistochemistry
- Male
- Membrane Glycoproteins
- Muscular Dystrophies
- Pedigree
- Phenotype