Chen, 2019: Overview of all reported PFBC-MYORG patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
A
CHN
46
51
Yes
Brain calcification
Cerebellar signs
Cognitive decline
-Motor
Speech disturbance
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Speech disturbance
Yes
A
CHN
40
42
No
Speech disturbance
Cerebellar signs
Parkinsonism
Brain calcification
Bradykinesia
-Motor
Cognitive decline
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Parkinsonism
No
A
CHN
52
62
Yes
Cognitive decline
-Motor
Parkinsonism
Bradykinesia
Cerebellar signs
Brain calcification
Speech disturbance
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Speech disturbance
Yes
A
CHN
43
49
No
Ataxia
Speech disturbance
-Motor
Brain calcification
Cerebellar signs
Cognitive decline
Show more (+3)
Speech disturbance
p.Tyr477*: hom