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No muscle involvement in myoclonus-dystonia caused by ɛ-sarcoglycan gene mutations

✍ Scribed by L. E. Hjermind; J. Vissing; F. Asmus; T. Krag; H. Lochmüller; M. C. Walter; J. Erdal; D. J. Blake; J. E. Nielsen

Book ID
111065470
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
504 KB
Volume
15
Category
Article
ISSN
1351-5101

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✍ Anjum Misbahuddin; Mark Placzek; Graham Lennox; Jan-Willem Taanman; Thomas T. Wa 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB

## 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.