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
Zaki, 2018 Case report/Case series none 10 n.g. 60% n.g. c.958+1G>C: hom
p.Asp40Ala: hom
p.Ser41del: hom
p.Tyr30*: hom
p.Ile260del: hom
p.Leu26Pro: hom
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Gulab, 2018 Case report/Case series none 1 n.g. 100% n.g. p.Gly120Asp: hom
Mukhtiar, 2016 Case report/Case series none 3 n.g. 100% n.g. p.His336Tyr: hom
Quadri, 2015 Family study none 5 I 20% n.g. Ala166Glnfs*7: hom
p.Gly165Alafs*27: hom
p.Gln154*: hom
Tuschl, 2012 Family study none 13 n.g. 23% n.g. 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
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Quadri, 2012 Family study none 4 C 100% n.g. p.Gln412Argfs*26: hom
p.Pro170Leufs*22: hom
p.Phe167Ser: hom