Overview of included studies for PARK-PRKN:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Ghazavi, 2011 Mutational screen 4 n.a. 100% 29(+/-3) p.Arg42Pro
+ p.Cys441Arg: comp. het.
p.Thr240Met
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
 Show more (+1)
Yoritaka, 2011 Other/Mixed 3 A 67% 50(+/-9) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(7+1_8-1)_(534+1_535-1)del: hom
Pacelli, 2011 Family study 2 C 0% 33(+/-3) c.(7+1_8-1)_(412+1_413-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(7+1_8-1)_(412+1_413-1)del: het
c.(171+1_172-1)_(412+1_413-1)del: n.a.
Guo, 2011 Mutational screen 4 A 100% 34(+/-7) c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del
+ p.Cys238Alafs*21: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del
 Show more (+1) + c.(7+1_8-1)_(412+1_413-1)del: comp. het.
Kay, 2010 Mutational screen 16 n.a. 69% 32(+/-12) p.Pro113Thrfs*51: hom
c.(7+1_8-1)_(171+1_172-1)del: hom
p.Pro113Thrfs*51
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: comp. het.
p.Gly430Asp
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Arg275Trp: comp. het.
c.(7+1_8-1)_(412+1_413-1)del
+ c.(7+1_8-1)_(534+1_535-1)dup: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
p.Gln34Argfs*5: comp. het.
c.(7+1_8-1)_(618+1_619-1)dup: comp. het.
 Show more (+10)
Zhang, 2010 Mutational screen 8 A 38% 24(+/-11) c.(618+1_619-1)_(734+1_735-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(734+1_735-1)_(1083+1_1084-1)del: comp. het.
p.Met1?
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Gly284Arg: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del
 Show more (+4) + c.(734+1_735-1)_(871+1_872-1)del: comp. het.
Guo, 2010 Mutational screen 3 A 67% 28(+/-8) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(7+1_8-1)_(171+1_172-1)del
+ p.Gln34Argfs*5: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
Keyser, 2010 Mutational screen 2 D 50% 45 c.(933+1_934-1)_(1083+1_1084-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Sammler, 2009 Case report/Case series 1 n.a. 100% 24 p.Pro113Thrfs*51
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Limousin, 2009 Other/Mixed 11 n.a. 27% 27(+/-9) c.(171+1_172-1)_(412+1_413-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Asn52Metfs*29
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Cys441Arg: comp. het.
c.(171+1_172-1)_(534+1_535-1)del
+ p.Arg275Trp: comp. het.
c.(?_-103-1)_(7+1_8-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)dup: comp. het.
 Show more (+4)
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