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
-Motor symptoms
Cognitive decline
Cerebellar signs
Speech disturbance
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Speech disturbance
Yes
A
CHN
40
42
No
-Motor symptoms
Brain calcification
Speech disturbance
Bradykinesia
Cerebellar signs
Parkinsonism
Cognitive decline
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Parkinsonism
No
A
CHN
52
62
Yes
-Motor symptoms
Cerebellar signs
Speech disturbance
Cognitive decline
Brain calcification
Bradykinesia
Parkinsonism
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Speech disturbance
Yes
A
CHN
43
49
No
Brain calcification
Speech disturbance
Ataxia
Cerebellar signs
Cognitive decline
-Motor symptoms
Show more (+3)
Speech disturbance
p.Tyr477*: hom