Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Camargos, 2009 Mutational screen 2 n.a. 100% 31(+/-13) p.Asn52Metfs*29
+ p.Thr240Met: comp. het.
c.(534+1_535-1)_(618+1_619-1)dup
+ p.Pro281Arg: comp. het.
Lee, 2009 Mutational screen 2 n.a. 50% 27(+/-5) p.Cys441Arg
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
Amboni, 2009 Case report/Case series 1 n.a. 100% 3 p.Thr240Met
+ c.(7+1_8-1)_(534+1_535-1)del: comp. het.
Macedo, 2009 Mutational screen 5 n.a. 60% 35(+/-12) p.Arg42Pro: hom
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Arg275Trp
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(734+1_735-1)_(871+1_872-1)dup
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(1083+1_1084-1)_(*2679_?)dup: hom
 Show more (+2)
Infante, 2009 Family study 4 n.a. 75% 30 p.Trp445*: hom
Reetz, 2009 Other/Mixed 6 n.a. 83% 40(+/-17) p.Val324Alafs*111: hom
p.Val324Alafs*111
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del
+ p.Arg275Trp: comp. het.
c.(734+1_735-1)_(871+1_872-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del
 Show more (+2) + c.(933+1_934-1)_(1083+1_1084-1)del: comp. het.
Bardien, 2009 Mutational screen 3 n.a. n.a. 27(+/-0) c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
Mellick, 2009 Mutational screen 1 n.a. 0% 30 p.Gly430Asp: hom
Myhre, 2008 Family study 2 n.a. 100% 32(+/-0) c.(412+1_413-1)_(534+1_535-1)del: hom
Guo, 2008 Other/Mixed 18 A n.a. 25(+/-5) p.Cys323_Val324del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
p.Gln34Argfs*5
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del
+ p.Cys253Phe: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: het
p.Cys441Arg: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
 Show more (+5)
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