Overview of included studies for PARK-PRKN:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
van de Warrenburg, 2001 Family study 3 n.a. 67% 31(+/-12) p.Lys211Asn
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Terreni, 2001 Mutational screen 3 n.a. 33% 41(+/-12) p.Arg42Pro: hom
Lu, 2001 Other/Mixed 2 n.a. 50% 29(+/-5) c.(171+1_172-1)_(412+1_413-1)del: hom
Ujike, 2001 Mutational screen 4 A n.a. 29(+/-5) c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
Pineda-Trujillo, 2001 Other/Mixed 9 n.a. 44% 27(+/-12) p.Trp74Cysfs*8: hom
p.Cys212Tyr: hom
Hayashi, 2000 Family study 4 A 25% 33(+/-5) c.(412+1_413-1)_(534+1_535-1)del: hom
Maruyama, 2000 Family study 14 A 43% 23(+/-9) p.Cys431Phe: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del
+ p.Cys431Phe: comp. het.
c.(7+1_8-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(534+1_535-1)del: comp. het.
 Show more (+2)
Klein, 2000 Family study 5 C 80% 49(+/-12) p.Val324Alafs*111
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
Lücking, 2000 Mutational screen 9 n.a. 38% 24(+/-11) p.Cys289Gly: hom
c.(7+1_8-1)_(171+1_172-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(?_-103-1)_(7+1_8-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Met1?: hom
c.(734+1_735-1)_(1083+1_1084-1)del
+ p.Glu409*: comp. het.
c.(171+1_172-1)_(534+1_535-1)del
 Show more (+4) + p.Asn52Metfs*29: comp. het.
Unknown, 2000 Mutational screen 3 A 67% 43(+/-8) c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95