De Carvalho Aguiar, 2010: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
O
BRA
6
21
Yes
Dystonia, tongue
Dysphonia
Dystonia, hand
Dystonia, foot
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, leg
Dystonia, generalized
Dystonia, laryngeal
Dystonia, lower face
Dystonia, jaw
Dystonia, craniofacial
Dystonia, axial
Dystonia, limb
Dystonia, arm
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Dystonia, arm
p.Met1?: het
Yes
O
BRA
4
12
Yes
Dysphonia
Dystonia, axial
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, leg
Dystonia, cervical
Dystonia, laryngeal
Dystonia, limb
Dystonia, tongue
Dystonia, hand
Dystonia, lower face
Dystonia, craniofacial
Dystonia, arm
Dystonia, foot
Dystonia, jaw
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Dystonia, leg
p.Met1?: het