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Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q
American Journal of Human Genetics
Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Jun
Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogenous group of disorders, with both recessive and dominant forms reported. Recently, a series of recessive LGMD families were linked to chromosome 15q. We report herein the results of our linkage studies in a previously reported large autosomal dominant family. The LGMD gene in this family was localized to chromosome 5q22.3-31.3 by using a series of CA(n) microsatellite repeat markers. Linkage to 15q was excluded. These findings confirm genetic heterogeneity in this clinically diverse syndrome.
Cell Line, Transformed Chromosome Banding Chromosome Mapping *Chromosomes, Human, Pair 5 DNA/blood/genetics/isolation & purification Female *Genes, Dominant Genetic Markers Humans Leukocytes/physiology Linkage (Genetics) Male Muscular Dystrophies/*genetics/physiopathology Pedigree Polymorphism, Genetic Repetitive Sequences, Nucleic Acid
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