Overview of included studies for PxMD-PNKD (DYT8, MR1):
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Zittel, 2015 Case report / Case series none 1 n.g. 0 0 p.Ala9Val: het
Ghezzi, 2015 Family study none 4 n.g. 50 5 (+/-7) p.Ala9Val: het
Liang, 2015 Family study none 17 A 100 0 p.Ala7Val: het
Fekete, 2013 Case report / Case series none 1 n.g. n.g. 9 p.Ala7Val: het
Yeh, 2012 Family study none 5 A 40 5 (+/-3) p.Ala7Val: het
Pons, 2012 Family study none 11 C 73 1 (+/-1) p.Ala7Val: het
Szczałuba, 2009 Family study none 3 C 33 2 p.Ala9Val: het
Ghezzi, 2009 Case report / Case series none 1 n.g. 100 n.g. p.Ala33Pro: het
Bruno, 2007 Family study none 48 n.g. 54 n.g. p.Ala7Val: het;
p.Ala9Val: het
Stefanova, 2006 Family study none 5 C 20 0 (+/-0) p.Ala9Val: het