Overview of included studies for PARK-PRKN:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Doherty, 2013 Case report/Case series 7 n.a. 43% 34(+/-8) p.Gly430Asp
+ p.Pro113Thrfs*51: comp. het.
p.Arg275Trp: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: comp. het.
Miyakawa, 2013 Case report/Case series 1 A 0% 61 c.(7+1_8-1)_(534+1_535-1)del: hom
de Mena, 2013 Mutational screen 13 n.a. n.a. 30(+/-9) p.Cys212Tyr: hom
p.Gln34Argfs*5
+ p.Cys212Tyr: comp. het.
p.Arg275Trp
+ p.Asn52Metfs*29: comp. het.
c.(412+1_413-1)_(534+1_535-1)del
+ p.Thr240Met: comp. het.
p.Asn52Metfs*29: hom
p.Trp445*: comp. het.
p.Pro202Leu: comp. het.
 Show more (+4)
Koentjoro, 2012 Family study 2 n.a. 0% 18 c.(7+1_8-1)_(171+1_172-1)del
+ c.(534+1_535-1)_(871+1_872-1)del: comp. het.
Guerrero Camacho, 2012 Other/Mixed 14 H 50% 39(+/-7) c.(412+1_413-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del
+ c.(933+1_934-1)_(1083+1_1084-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del: comp. het.
c.(1285+1_1286-1)_(*2679_?))del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(1167+1_1168-1)del: comp. het.
p.Asn52Metfs*29: hom
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Ruffmann, 2012 Case report/Case series 2 n.a. n.a. n.a. c.(171+1_172-1)_(412+1_413-1)del
+ p.Arg275Trp: comp. het.
Moura, 2012 Mutational screen 1 n.a. 100% 46 c.(171+1_172-1)_(412+1_413-1)dup
+ c.(534+1_535-1)_(734+1_735-1)del: comp. het.
Haylett, 2012 Mutational screen 3 n.a. n.a. 36(+/-17) p.Gly430Asp
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
+ p.Pro113Thrfs*51: comp. het.
Elfferich, 2011 Mutational screen 12 n.a. 43% 35(+/-12) c.8-61987_171+4006del
+ c.172-5243_412+18307del: comp. het.
c.8-48180_171+84346del
+ c.734+61166_871+2877dupinsTGCAATT: comp. het.
c.172-4427_413-6108del
+ p.Gln34Argfs*5: comp. het.
p.Arg275Trp: comp. het.
c.413-26603_534+367del27092ins28: comp. het.
c.534+17825_735-64158del: comp. het.
c.1-17782_7+123791del
+ c.171+11347_618+17328del395200: comp. het.
c.8-51502_172-33560dupinsT: comp. het.
 Show more (+5)
Hassin-Baer, 2011 Family study 12 B 67% 26(+/-10) p.Gln34Argfs*10: hom
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