Overview of included studies for DYT/PARK-SLC30A10:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Mukhtiar, 2016Case report / Case seriesnone3In.g.n.g.p.His336Tyr: hom
Quadri, 2015Family studynone5In.g.n.g.p.Ala166Glnfs*7: hom
p.Gly165Alafs*27: hom
p.Gln154*: hom
Tuschl, 2012Family studynone13C, A, B, I, n.g.n.g.n.g.c.719-105_*295+97693del: 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

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Quadri, 2012Family studynone4Cn.g.n.g.p.Gln412Argfs*26: hom
p.Pro170Leufs*22: hom
p.Phe167Ser: hom