Overview of included studies for PxMD-PRRT2 (DYT10, PKC):
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Huang, 2015 Mutational screen none 3 n.g. 67 2 p.Gln263*: het;
p.Arg266Gln: het;
p.Arg311Trp: hom
Lamperti, 2016 Mutational screen none 16 C 50 13 (+/-8) p.Arg217Profs*8: het;
p.Thr72Argfs*62: het;
p.Gly323Arg: het;
p.Ser9*: het

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Termsarasab, 2014 Case report / Case series none 1 C 100 11 c.(?_-949)_(*1242_?)del (0.534 Mb): het
Chen, 2015 Mutational screen none 5 A 60 8 (+/-2) p.Arg217Profs*8: het;
p.Pro45Argfs*44: het
Delcourt, 2015 Mutational screen none 4 n.g. 50 2 p.Arg217Profs*8: hom;
p.Arg217Profs*8 + c.(?_-949)_(*1242_?)del: comp. het.
Chou, 2014 Family study none 3 A 100 10 (+/-0) p.Arg217Profs*8: het
Zhang, 2015 Family study none 4 A 75 4 (+/-2) p.Ser202Hisfs*26: het
Ebrahimi-Fakhari, 2014 Family study none 3 C 33 12 p.Arg217Profs*8: het
Guerrero-López, 2014 Family study none 3 n.g. 100 n.g. p.Arg217Profs*8: het;
p.Val41Thrfs*93: het
Ji, 2014 Family study none 2 A 50 10 p.Pro63Glnfs*70: het