| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
DEU
|
2
|
6
|
No
|
Myoclonus
Developmental delay Dystonia (any or unspecified) Myoclonus, cervical Dystonia, truncal Myoclonus, Upper Limb Writer's Cramp Dystonia, task-specific Dystonia, cervical Myoclonus, action Dystonia, upper limb Myoclonus, multifocal Show more (+9) |
Myoclonus, action
|