𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation

✍ Scribed by Gabriele Wohlrab; Goekhan Uyanik; Claudia Gross; Ute Hehr; Jürgen Winkler; Bernhard Schmitt; Eugen Boltshauser

Book ID
106120785
Publisher
Springer
Year
2005
Tongue
English
Weight
213 KB
Volume
164
Category
Article
ISSN
0340-6997

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.

Blepharospasm and limb dystonia caused b
Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene
✍ Hee T. Kim; Mark J. Edwards; Jess Tyson; Niall P. Quinn; Maria Bitner-Glindzicz; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB

## Abstract Mohr‐Tranebjaerg syndrome (MTS) is an X‐linked disorder characterized by childhood‐onset progressive deafness, dystonia, spasticity, mental deterioration, and blindness. It is due to mutations in the deafness/dystonia peptide (__DDP1__) gene. We describe a sporadic 42‐year‐old man with