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Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome

✍ Scribed by Zimprich, Alexander; Grabowski, Monika; Asmus, Friedrich; Naumann, Markus; Berg, Daniela; Bertram, Markus; Scheidtmann, Karl; Kern, Peter; Winkelmann, Juliane; Müller-Myhsok, Bertram; Riedel, Leonhard; Bauer, Matthias; Müller, Tanja; Castro, Mirna; Meitinger, Thomas; Strom, Tim M.; Gasser, Thomas

Book ID: 109919654
Publisher: Nature Publishing Group
Year: 2001
Tongue: English
Weight: 530 KB
Volume: 29
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng709

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## Abstract We describe two affected individuals in a family with myoclonus–dystonia syndrome complicated with severe depression. One individual committed suicide. Molecular genetic analysis revealed a heterozygous point mutation in the ε‐sarcoglycan gene, which we show leads to skipping of exon 5.