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