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Overview of included studies for PARK-ATP13A2:
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carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
van de Warrenburg, 2016 Other/Mixed 1 n.a. 100% 0 p.Gly892Asp: hom
Martino, 2015 Other/Mixed 1 n.a. 100% 14 p.Ser941Thrfs*2: hom
Malakouti-Nejad, 2014 Other/Mixed 3 n.a. 67% 18(+/-11) p.Gln858*: hom
Bras, 2012 Family study 3 n.a. 33% 14(+/-2) p.Met854Arg: hom
Eiberg, 2012 Family study 5 AM 40% 18(+/-8) p.Leu825Asnfs*33: hom
Crosiers, 2011 Family study 1 n.a. 100% n.a. p.Phe851Cysfs*6: hom