Krim, 2018: Overview of all reported DYT/PARK-GCH1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
18
23
n.a.
Lower limb dystonia
Dystonia, foot
Dystonia, limb
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, segmental/multifocal
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Dystonia, leg
p.Glu236*: het
No
n.a.
n.a.
15
54
No
Dystonia, limb
Upper limb dystonia
Dystonia, segmental/multifocal
Diurnal fluctuations
Dystonia, arm
Dystonia, task-specific
Dystonia, hand
Dystonia (any or unspecified)
Dystonia, foot
Lower limb dystonia
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Dystonia, foot
p.Glu236*: het