Overview of included studies for PARK-PINK1:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Leutenegger, 2006Family studynone5Bn.g.13 (+/-2)p.Ala217Asp: hom
Hedrich, 2006Family studynone4Cn.g.50 (+/-9)p.Gln456*: hom
Criscuolo, 2006Other / Mixednone1n.g.n.g.22p.Trp437*: hom
Zadikoff, 2006Case report / Case seriesnone1n.g.n.g.37p.Gln456*: hom
Tan, 2006Mutational screen<552n.g.n.g.38 (+/-19)p.Arg246*: hom
p.Tyr258*: hom
Ibáñez, 2006Other / Mixed<6012C, A, Dn.g.35 (+/-8)p.Gln456*: hom
p.Gln456* + p.Cys125Gly: comp. het.
p.Glu240Lys: hom
p.Arg492* + p.Leu369Pro: comp. het.
p.Gly386Ala: hom
p.Gly409Val: hom
p.Lys520Argfs*3: hom
p.Cys549Trpfs*5 + p.Lys24Glyfs*31: comp. het.

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Bonifati, 2005Mutational screen<503n.g.n.g.32 (+/-3)p.Ala168Pro: hom
p.Trp437*: hom
p.Gln456*: hom
Klein, 2005Mutational screen<512n.g.n.g.41 (+/-12)p.Ser284= + p.Arg279His: comp. het.
p.Gln534_Ser535insGln: hom
Albanese, 2005Case report / Case seriesnone1n.g.n.g.39p.Ala168Pro: hom
Li, 2005Family studynone3n.g.n.g.40 (+/-3)p.Cys388Arg: hom
c.1123+1247_*881del: hom