Focal brain glucose hypermetabolism in myoclonus-dystonia syndrome caused by an epsilon-sarcoglycan gene mutation

Myoclonus–dystonia syndrome with severe

Myoclonus–dystonia syndrome with severe depression is caused by an exon-skipping mutation in the ε-sarcoglycan gene

✍ 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.