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