22/8/96

We recently cloned a novel human member of sarcoglycan family of dystrophin-associated glycoproteins (HMG 5, 1179, 1186 (1996). This gene, named delta-sarcoglycan, was mapped to chromosome 5q33, where autosomal recessive limb-girdle muscular dystrophy 2F was linked. These patients have a severe Duchenne-like phenotype, but the dystrophin is only moderately reduced, while all the four sarcoglycans are absent. We are able to perform the mutation screening starting from genomic DNA, since we cloned all the exon-intron boundaries of the delta-sarcoglycan gene. Moreover, we developed polyclonal antibodies against the 35Kda protein product. We are interested to collaborate with groups who selected families with severe autosomal recessive muscular dystrophy. Linkage to D5S487 or D5S1439 should be not excluded.