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.Ala234Serfs*5
+ p.Gly41Glu: comp. het.
p.Leu307Ser
+ p.Tyr206*: 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.Val406Cysfs*14
Show more (+1) + p.Met582Cysfs*6: comp. het.