Article
EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population.
Parkinsonism & related disorders - 1 Jun 2014
Nishioka Kenya, Funayama Manabu, Vilariño-Güell Carles, Ogaki Kotaro, Li Yuanzhe, Sasaki Ryogen, Kokubo Yasumasa, Kuzuhara Shigeki, Kachergus Jennifer M, Cobb Stephanie A, Takahashi Hirohide, Mizuno Yoshikuni, Farrer Matthew J, Ross Owen A, Hattori Nobutaka
Abstract excerpt
Pathogenic mutations in the EIF4G1 gene were recently reported as a cause of autosomal dominant parkinsonism. To assess the frequency of EIF4G1 mutations in the Japanese population we sequenced the entire gene coding region (31 exons) in 95 patients with an apparent autosomal dominant inherited form of Parkinson's disease. We detected three novel point mutations located in a poly-glutamic acid repeat within exon...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.