Overview of included studies for PFBC-MYORG:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Arkadir, 2019 Family study 8 n.a. 75% 34(+/-12) p.Phe411Leufs*23: hom
p.Asp354del: hom
Forouhideh, 2019 Case report/Case series 3 n.a. 100% 42(+/-4) p.Ile656Thr: hom
Chen, 2019 Mutational screen 4 A 50% 45(+/-5) p.Arg116_Ser117insLeuAlaPheArg
+ p.Trp229Cys: comp. het.
p.Tyr477*: hom
p.Leu143_Ile147del: hom
Peng, 2019 Case report/Case series 1 n.a. 0% 40 p.Gln445*: hom
Yao, 2018 Family study 6 A 83% n.a. p.Trp75*: hom
p.Met35Val
+ p.Trp443*: comp. het.
p.Trp75*
+ p.Arg441Gly: comp. het.
p.Ser232Leu: hom
p.Gln203*
Show more (+2) + p.Arg261Leu: comp. het.