𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

✍ Scribed by Lohmann, Katja; Wilcox, Robert A.; Winkler, Susen; Ramirez, Alfredo; Rakovic, Aleksandar; Park, Jin-Sung; Arns, Björn; Lohnau, Thora; Groen, Justus; Kasten, Meike; Brüggemann, Norbert; Hagenah, Johann; Schmidt, Alexander; Kaiser, Frank J.; Kumar, Kishore R.; Zschiedrich, Katja; Alvarez-Fischer, Daniel; Altenmüller, Eckart; Ferbert, Andreas; Lang, Anthony E.; Münchau, Alexander; Kostic, Vladimir; Simonyan, Kristina; Agzarian, Marc; Ozelius, Laurie J.; Langeveld, Antonius P. M.; Sue, Carolyn M.; Tijssen, Marina A. J.; Klein, Christine

Book ID
120233664
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
397 KB
Volume
73
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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.