Overview of included studies for PARK-VPS13C:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Darvish, 2018 Case report/Case series 1 n.a. 0% n.a. p.Val452_Lys3035del: hom
Lesage, 2016 Family study 3 n.a. 33% 29(+/-6) c.8445+2T>G: hom
p.Glu3190*
+ p.Arg269Serfs* 14: comp. het.
p.Gly1389Arg
+ p.Gln1593Lysfs*7: comp. het.