Borges, 2007: Overview of all reported MYC/DYT-SGCE patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
O
BRA
7
35
No
Myoclonus at rest
Myoclonus, action
Dystonia, cervical
Dystonia, upper limb
Myoclonus, Upper Limb
Writer's Cramp
Dystonia, task-specific
Myoclonus
Dystonia (any or unspecified)
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Myoclonus
p.Gln161*: het
Yes
O
BRA
15
35
Yes
Myoclonus, multifocal
Dystonia, upper limb
Anxiety panic attacks
Dystonia (any or unspecified)
Myoclonus, Upper Limb
Myoclonus
Myoclonus, action
Myoclonus at rest
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n.a.
c.232+1G>A: het