Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion.

• Authors: Ryosuke Miyamoto, Etsuro Ohta, Toshitaka Kawarai, Hidetaka Koizumi, Wataru Sako, Yuishin Izumi, Fumiya Obata, Ryuji Kaji
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 27 Issue 10 Pg. 1324-5 (Sep 01 2012) ISSN: 1531-8257 [Electronic] United States
• PMID: 22821615 (Publication Type: Letter, Research Support, Non-U.S. Gov't, Video-Audio Media)

Chemical References

• Apoptosis Regulatory Proteins
• DNA-Binding Proteins
• Nuclear Proteins
• THAP1 protein, human

Topics

• Adult
• Apoptosis Regulatory Proteins (genetics)
• Asian People (genetics)
• DNA Mutational Analysis
• DNA-Binding Proteins (genetics)
• Deep Brain Stimulation (methods)
• Dystonia Musculorum Deformans (genetics, therapy)
• Family Health
• Female
• Globus Pallidus (physiology)
• Humans
• Male
• Middle Aged
• Mutation (genetics)
• Nuclear Proteins (genetics)