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