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Overview of included studies for PFBC-MYORG:
Filter for
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