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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
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.
Camargos, 2008 Other/Mixed 7 O 71% 9(+/-6) p.Pro222Leu: hom