Article
Familial Parkinsonism with digenic parkin and PINK1 mutations.
Movement disorders : official journal of the Movement Disorder Society - 30 Jul 2008
Funayama Manabu, Li Yuanzhe, Tsoi Tak-Hong, Lam Ching-Wan, Ohi Takekazu, Yazawa Shogo, Uyama Eiichiro, Djaldetti Ruth, Melamed Eldad, Yoshino Hiroyo, Imamichi Yoko, Takashima Hiroshi, Nishioka Kenya, Sato Kenichi, Tomiyama Hiroyuki, Kubo Shin-Ichiro, Mizuno Yoshikuni, Hattori Nobutaka
Abstract excerpt
To clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations. We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations. The age at onset of Parkinsonism of patients with the d...
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