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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.

Original publication

DOI

10.1002/mds.10476

Type

Journal article

Journal

Mov Disord

Publication Date

09/2003

Volume

18

Pages

1047 - 1051

Keywords

Adolescent, Adult, Aged, Cytoskeletal Proteins, Dystonic Disorders, Female, Genetic Heterogeneity, Humans, Male, Membrane Glycoproteins, Middle Aged, Myoclonus, Pedigree, Polymerase Chain Reaction, Sampling Studies, Sarcoglycans, Syndrome