Chishti MA, Bohlega S, Ahmed M, Loualich A, Carroll P, Sato C, St George-Hyslop P, Westaway D, Rogaeva E. T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. Arch Neurol 63: 1483-5, 2006 (PubMed ID: 17030667)

Mutations

PINK1: (Thr313Met)

ID: 329

Kumazawa R, Tomiyama H, Li Y, Imamichi Y, Funayama M, Yoshino H, Yokochi F, Fukusako T, Takehisa Y, Kashihara K, Kondo T, Elibol B, Bostantjopoulou S, Toda T, Takahashi H, Yoshii F, Mizuno Y, Hattori N. Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease. Arch Neurol 65: 802-8, 2008 (PubMed ID: 18541801)

Mutations

PINK1: (Ala78Val) (Pro196fs) (Asp297fs) (Thr313Met) (Met342Val) (Cys388Arg) (Trp437Arg) (Val482Met) (Asn542Ser)

ID: 345

Guo JF, Xiao B, Liao B, Zhang XW, Nie LL, Zhang YH, Shen L, Jiang H, Xia K, Pan Q, Yan XX, Tang BS. Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism. Mov Disord 23: 2074-9, 2008 (PubMed ID: 18785233)

Mutations

PARK2: (ex1del (breakpoints not mapped)) (ex2del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (Gln34fs) (Cys253Phe) (Cys323fs) (Cys441Arg)
PINK1: (Thr313Met) (Arg492Stop)
PARK7: (Leu10Pro)

ID: 273