Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Poorkaj, 2004 Mutational screen 3 C 33% 20(+/-15) p.Pro113Thrfs*51
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Dogu, 2004 Other/Mixed 3 n.a. 33% 27(+/-10) c.(412+1_413-1)_(534+1_535-1)del: hom
Wiley, 2004 Mutational screen 3 n.a. 67% 32(+/-9) p.Pro113Thrfs*51
+ p.Arg275Trp: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
c.(171+1_172-1)_(534+1_535-1)del
+ c.618+17A>C: comp. het.
Djarmati, 2004 Mutational screen 1 n.a. 100% 41 p.Pro437Leu
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
Kunishige, 2004 Case report/Case series 2 A 50% 34(+/-21) c.(171+1_172-1)_(534+1_535-1)del: hom
Hedrich, 2004 Mutational screen 3 n.a. 33% 25(+/-9) p.Arg275Trp: hom
c.(534+1_535-1)_(618+1_619-1)del
+ p.Arg275Trp: comp. het.
p.Pro113Thrfs*51
+ p.Asn52Metfs*29: comp. het.
Lincoln, 2003 Mutational screen 9 n.a. 89% 61(+/-10) p.Gln34Argfs*5: hom
p.Arg256Cys: hom
p.Arg275Trp: hom
c.(412+1_413-1)_(534+1_535-1)del
+ p.Arg275Trp: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(734+1_735-1)_(871+1_872-1)dup: hom
 Show more (+3)
Lohmann, 2003 Mutational screen 6 n.a. n.a. 24(+/-6) p.Gln34Argfs*5: hom
c.(171+1_172-1)_(412+1_413-1)del
+ c.(734+1_735-1)_(871+1_872-1)dup: comp. het.
c.(171+1_172-1)_(734+1_735-1)del
+ p.Arg275Trp: comp. het.
c.(534+1_535-1)_(734+1_735-1)del: hom
c.(618+1_619-1)_(734+1_735-1)dup
+ p.Asn52Metfs*29: comp. het.
p.Asn52Metfs*29: hom
 Show more (+3)
Illarioshkin, 2003 Family study 3 n.a. 67% 17(+/-6) p.Gln34Argfs*5
+ c.7+1G>A: comp. het.
c.(734+1_735-1)_(871+1_872-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del: hom
Okuma, 2003 Case report/Case series 1 A 100% 38 c.(534+1_535-1)_(618+1_619-1)del: hom
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95