Camargo, 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
O
BRA
22
26
Yes
Dystonia, laryngeal
Dysarthria
Dystonia, limb
Dystonia, cervical
Dystonia, craniofacial
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, axial
Dystonia, leg
Dystonia, oromandibular
Dystonia, generalized
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Dystonia, arm
p.Gln97*: het
Yes
O
BRA
18
25
Yes
Dystonia, segmental/multifocal
Dystonia, oromandibular
Dystonia, limb
Dystonia, arm
Dystonia, cervical
Dystonia, craniofacial
Dystonia (any or unspecified)
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n.a.
p.Gln97*: het