| Literature DB >> 12821748 |
E M J Foncke1, C Klein, J H T M Koelman, P L Kramer, K Schilling, B Müller, J Garrels, P de Carvalho Aguiar, L Liu, A de Froe, J D Speelman, L J Ozelius, M A J Tijssen.
Abstract
A five-generation Dutch family with inherited myoclonus-dystonia (M-D) is described. Genetic analysis revealed a novel truncating mutation within the epsilon-sarcoglycan gene (SGCE). In three of five gene carriers, epilepsy and/or EEG abnormalities were associated with the symptoms of myoclonus and dystonia. The genetic and clinical heterogeneity of M-D is extended. EEG changes and epilepsy should not be considered exclusion criteria for the clinical diagnosis of M-D.Entities:
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Year: 2003 PMID： 12821748 DOI： 10.1212/01.wnl.0000066020.99191.76
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910