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, action
Myoclonus, multifocal
Myoclonus
Developmental delay
Myoclonus, face
Dystonia (any or unspecified)
Myoclonus, cervical
Show more (+5)
Dystonia (any or unspecified)
c.508-1G>C: het