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
Dystonia, generalized
Dystonia, leg
Dystonia, lower face
Dystonia, arm
Dystonia, jaw
Dystonia, limb
Dystonia, axial
Dystonia, foot
Dystonia, hand
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, craniofacial
Dysphonia
Dystonia, laryngeal
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Dystonia, arm
p.Met1?: het
Yes
O
BRA
4
12
Yes
Dystonia, lower face
Dystonia, limb
Dystonia, laryngeal
Dystonia, tongue
Dysphonia
Dystonia, craniofacial
Dystonia, foot
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, jaw
Dystonia, leg
Dystonia, axial
Dystonia, generalized
Dystonia, hand
Dystonia, cervical
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Dystonia, leg
p.Met1?: het