Overview of included studies for DYT/PARK-PLA2G6:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Karkheiran, 2015 Other/Mixed 1 n.a. 100% 14 p.Arg741Gln: hom
Xie, 2015 Mutational screen 2 n.a. 100% 36(+/-0) p.Asp331Tyr: hom
Kim, 2015 Other/Mixed 2 A 50% 14(+/-11) p.Gly347Arg
+ p.Ser557Leu: comp. het.
Malaguti, 2015 Case report/Case series 1 C 0% 27 p.Ala516Val: hom
Romani, 2015 Case report/Case series 2 n.a. 0% n.a. p.Glu547Gly: hom
p.Arg745Pro: hom
Frattini, 2015 Case report/Case series 1 n.a. 0% 0 p.Met1Ile
+ p.Arg745Trp: comp. het.
Cif, 2014 Case report/Case series 1 JO 0% 5 p.Glu547Gly: hom
Illingworth, 2014 Case report/Case series 5 n.a. 40% 2(+/-1) p.Lys509Glnfs*5
+ p.Arg600Trp: comp. het.
p.Gly586Arg: hom
p.His792Pro: hom
c.(609+1_610-1)_(1186+1_1187-1)dup
+ p.Leu560Trpfs*5: comp. het.
p.Tyr790*
 Show more (+2) + p.Gly231Arg: comp. het.
Solomons, 2014 Case report/Case series 1 n.a. 0% 2 p.Leu451Tyrfs*20: hom
Salih, 2013 Case report/Case series 11 B 45% 2(+/-2) p.Val376Trpfs*14: hom
p.Ser637Argfs*29: hom
p.Arg591Gln: hom
p.Arg645*: hom
p.Gly740Arg: hom
p.His225Tyr: hom
 Show more (+3)
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