Please log on to access all functions of the MDSGene database.

Overview of included studies for DYT/PARK-SLC30A10:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Mukhtiar, 2016 Case report/Case series 3 n.a. 100% 8(+/-2) p.His336Tyr: hom
Quadri, 2015 Family study 5 I 20% 3(+/-1) Ala166Glnfs*7: hom
p.Gly165Alafs*27: hom
p.Gln154*: hom
Tuschl, 2012 Family study 13 n.a. 23% 5(+/-4) c.719-5_*276+97693: hom
p.Leu89Pro: hom
p.Val98_Phe134del: hom
p.Ala105_Pro107del: hom
p.Thr196Profs*17: hom
p.Val256del: hom
p.Gln308*: hom
p.Leu349Pro: hom
Show more (+5)