Overview of included studies for PFBC-MYORG:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Saranza, 2020 Case report/Case series 1 A 0% n.a. p.Arg611Trp: hom
Chelban, 2020 Mutational screen 8 n.a. 38% n.a. p.Gly59Asp: hom
p.Pro496Leu: hom
p.Gly545Asp: het
p.Leu696Profs*10: het
p.Gly680Ser: het
p.Gln109*: het
p.Trp426Cysfs*11: het
Show more (+4)
Chen, 2020 Mutational screen 8 A 63% n.a. p.Arg113_Ser116dup: hom
p.Arg504Pro
+ p.Arg227Gly: comp. het.
p.Arg261Leu
+ p.Ile656Thr: comp. het.
p.Ile656Thr: hom
p.Arg298Pro: hom
p.Gly64Glu: hom
Show more (+3)
Taglia, 2019 Family study 2 C 50% n.a. p.Arg314*
+ p.Cys125_Leu132delinsVal: comp. het.
Ferreira, 2019 Mutational screen 1 n.a. 0% n.a. p.Gly286Trpfs*149: hom
Grangeon, 2019 Mutational screen 13 n.a. 54% n.a. p.Leu622Pro
+ p.Leu113Arg: comp. het.
p.Ile656Thr
+ p.Thr476Asn: comp. het.
p.Asp434His: hom
p.Trp249Cys: hom
p.Arg113_Ser116dup
+ p.Arg611Trp: comp. het.
p.Ser513del
+ p.Ala373Asp: comp. het.
p.Ala236dup: hom
p.Gln445*: comp. het.
p.Glu466Argfs*27
+ p.Tyr360Metfs*74: comp. het.
p.Gly64Glu: hom
Show more (+7)
Ramos, 2019 Family study 1 C 100% n.a. p.Asn511Thrfs*243: hom
Arkadir, 2019 Family study 8 n.a. 75% n.a. p.Phe411Leufs*23: hom
p.Asp354del: hom
Forouhideh, 2019 Case report/Case series 3 n.a. 100% n.a. p.Ile656Thr: hom
Chen, 2019 Mutational screen 5 A 40% n.a. p.Arg113_Ser116dup: hom
p.Trp229Cys
+ p.Arg113_Ser116dup: comp. het.
p.Tyr477*: hom
p.Leu143_Ile147del: hom
Show more (+1)