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Overview of included studies for DYT-PRKRA:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Dos Santos, 2018 Mutational screen 7 n.a. 57% 19(+/-16) p.Pro222Leu: hom
p.Ser265Arg
+ p.Pro222Leu: comp. het.
Quadri, 2016 Family study 3 C 100% 5(+/-3) p.Pro222Leu: hom
de Carvalho Aguiar, 2015 Family study 2 C 0% 4 p.Cys213Phe
+ p.Cys77Ser: comp. het.