Medline ® Abstract for Reference 31
of 'Classification and evaluation of myoclonus'
31
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Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families.
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Han F, Lang AE, Racacho L, Bulman DE, Grimes DA
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Neurology. 2003;61(2):244.
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.
AD
Ottawa Health Research Institute, Centre for Neuromuscular Disease, University of Ottawa, Ontario, Canada.
PMID