title: Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families.
abstract: Myoclonus-dystonia syndrome (MDS) is a disorder for which the major cause appears to be mutations in the epsilon-sarcoglycan gene (SGCE). The authors have now performed mutation screening in 22 affected individuals from seven families with findings of typical MDS. A novel 5-bp deletion in exon 7 of the gene in one family and the previously reported R102X nonsense mutation in exon 3 in two other families were identified. Mutations in the SGCE gene were found in the minority of families screened in this series.
authors.affiliation: Ottawa Health Research Institute, Centre for Neuromuscular Disease, University of Ottawa, Ontario, Canada.
authors.forename: F
authors.initials: F
authors.lastname: Han
authors.forename: A E
authors.initials: AE
authors.lastname: Lang
authors.forename: L
authors.initials: L
authors.lastname: Racacho
authors.forename: D E
authors.initials: DE
authors.lastname: Bulman
authors.forename: D A
authors.initials: DA
authors.lastname: Grimes
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009207:Myoclonus / Q000235:genetics*; D010641:Phenotype; D049031:Sarcoglycans; D017384:Sequence Deletion
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans