Rubino, 2017: Overview of all reported PFBC-SLC20A2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
ITA
n.a.
48
No
Headache
Hyperreflexia
Migraine (any subclass)
Brain calcification
-Motor
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Migraine (any subclass)
p.Gly63Asp: het