A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome.
Two families were referred with different clinical diagnoses of dystonia. Twenty-four family members were examined clinically, and mutation analyses were performed. Most of the affected individuals had laryngeal myoclonus and more severe dystonia of the legs than usually reported in myoclonus-dystonia syndrome. Sequence analyses revealed a previously unreported deletion (974delC or R325X) in exon 7 in the epsilon-sarcoglycan gene in members of both families. The two families were found to be related.
Department of Medical Genetics, Panum Institute, University of Copenhagen, Denmark. lena@imbg.ku.dk
L E
LE
Hjermind
L M
LM
Werdelin
H
H
Eiberg
B
B
Krag-Olsen
E
E
Dupont
S A
SA
Sørensen
D017668:Age of Onset; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009207:Myoclonus / Q000235:genetics*; D010375:Pedigree; D049031:Sarcoglycans; D017384:Sequence Deletion; D013577:Syndrome
D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans