Thümmler, 2009: Overview of all reported DYT-SGCE patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
FRA
2
3
Yes
Myoclonus
Myoclonus, cervical
Myoclonus, action
Myoclonus, Upper Limb
Myoclonus,generalized
Myoclonus, axial
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Myoclonus, Upper Limb
p.Tyr314*: het