Ding, 2018: Overview of all reported PFBC-SLC20A2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
A
CHN
50
52
Yes
PKD
-Motor
Brain calcification
Dyskinesia
Attacks - lower limbs
Cognitive decline
Attacks – bilateral
Cerebellar signs
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n.a.
p.Thr83Met: het