Overview of included studies for PxMD-PNKD:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Zittel, 2015Case report / Case seriesnone1n.g.n.g.0p.Ala9Val: het
Ghezzi, 2015Family studynone4n.g.n.g.5 (+/-7)p.Ala9Val: het
Liang, 2015Family studynone17An.g.0p.Ala7Val: het
Fekete, 2013Case report / Case seriesnone1n.g.n.g.9p.Ala7Val: het
Yeh, 2012Family studynone5An.g.5 (+/-3)p.Ala7Val: het
Pons, 2012Family studynone11Cn.g.1 (+/-1)p.Ala7Val: het
Szczałuba, 2009Family studynone3Cn.g.2p.Ala9Val: het
Ghezzi, 2009Case report / Case seriesnone1n.g.n.g.n.g.p.Ala33Pro: het
Bruno, 2007Family studynone48n.g.n.g.n.g.p.Ala7Val: het
p.Ala9Val: het
Stefanova, 2006Family studynone5Cn.g.0 (+/-0)p.Ala9Val: het