Marcé-Grau, 2019: Overview of all reported DYT-KCTD17 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
ARG
n.a.
19
No
Myoclonus, cervical
Developmental delay
Myoclonus
Myoclonus, face
Myoclonus, multifocal
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Myoclonus, action
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Dystonia (any or unspecified)
c.508-1G>C: het