Marcé-Grau, 2019: Overview of all reported MYC/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
Dystonia (any or unspecified)
Myoclonus, multifocal
Myoclonus, cervical
Myoclonus, face
Developmental delay
Myoclonus, Upper Limb
Myoclonus, action
Myoclonus
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Dystonia (any or unspecified)
c.508-1G>C: het