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
Myoclonus, action
Myoclonus
Myoclonus, cervical
Myoclonus, face
Myoclonus, multifocal
Myoclonus, Upper Limb
Developmental delay
Dystonia (any or unspecified)
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Dystonia (any or unspecified)
c.508-1G>C: het