title: Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.
abstract: The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D003598:Cytoskeletal Proteins / Q000032:analysis* / Q000235:genetics; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000032:analysis* / Q000235:genetics; D008875:Middle Aged; D009207:Myoclonus / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012494:Sampling Studies; D049031:Sarcoglycans; D013577:Syndrome
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans