Groen, 2014: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
13
n.a.
Yes
Dystonia, axial
Dystonia, limb
Dystonia, hand
Dystonia, cervical
Dystonia, segmental/multifocal
Dystonia, laryngeal
Dystonia, arm
Dystonia (any or unspecified)
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Dystonia, arm
p.Gln167*: het
Yes
n.a.
n.a.
23
36
No
Dystonia, laryngeal
Dystonia, axial
Dystonia, segmental/multifocal
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, limb
Dystonia,task-specific
Dystonia, hand
Dystonia, cervical
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n.a.
c.72-1G>A: het