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