Overview of included studies for DYT-AOPEP:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Menden, 2022 Mutational screen 2 C 100% 22(+/-3) p.Gly41Glu
+ p.Ala234Serfs*5: comp. het.
p.Tyr206*
+ p.Leu307Ser: comp. het.
Garavaglia, 2022 Mutational screen 3 A 100% 17(+/-4) c.1917-1G>A: hom
p.Arg401Trp: hom
Fevga, 2022 Case report/Case series 1 I 100% 20 p.Gly135*: hom
Zech, 2022 Mutational screen 5 C 40% 21(+/-11) p.Arg493*: hom
p.Arg255*
+ p.Trp259*: comp. het.
p.Ala234Serfs*5
+ p.Val681_Lys705del; p.Pro660_Lys705del: comp. het.
p.Met582Cysfs*6
 Show more (+1) + p.Val406Cysfs*14: comp. het.
© University of Lübeck. Last updated on Feb. 11, 2020. Version: 3.5.91