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  • Title: Limb-girdle muscular dystrophy is closely linked to the fibrillin locus on chromosome 15.
    Author: Velinov M, Sarfarazi M, Young K, Hodes ME, Conneally PM, Jackson CE, Tsipouras P.
    Journal: Connect Tissue Res; 1993; 29(1):13-21. PubMed ID: 8339542.
    Abstract:
    Limb-girdle Muscular Dystrophy (LGMD) is a rare form of muscular dystrophy inherited as an autosomal recessive trait. The LGMD locus was recently mapped to chromosome 15. We tested the hypothesis that fibrillin is a candidate in the etiology of the disorder by genetic linkage analysis. A large Amish kindred segregating the disorder was genotyped for two markers specific for the fibrillin gene on chromosome 15. A total of 105 individuals were genotyped and a maximum LOD score of Z = 9. 135 at theta = 0.04 was obtained. Our results confirmed the mapping of the LGMD on chromosome 15 and excluded fibrillin as a candidate molecule. These data will be useful in the construction of a fine map of the region surrounding the LGMD locus, a prerequisite for the cloning of the LGMD gene.
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