Marelli, 2008: Overview of all reported DYT-SGCE patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
n.a.
6
33
Yes
Myoclonus
Myoclonus, multifocal
Myoclonus, action
n.a.
c.233-1G>T: het
Yes
n.a.
n.a.
n.a.
3
25
n.a.
Dystonia (any or unspecified)
Myoclonus, multifocal
Myoclonus at rest
Myoclonus, action
Myoclonus
Show more (+2)
n.a.
p.Trp270*: het
Yes
n.a.
n.a.
n.a.
2
18
n.a.
Dystonia (any or unspecified)
Myoclonus at rest
Myoclonus
Myoclonus, action
Myoclonus, multifocal
Show more (+2)
n.a.
p.Arg102*: het
No
n.a.
n.a.
n.a.
6
19
Yes
Myoclonus, multifocal
Myoclonus
Myoclonus, action
Myoclonus at rest
Show more (+1)
n.a.
c.233-1G>T: het
No
n.a.
n.a.
n.a.
2
9
Yes
Myoclonus at rest
Myoclonus, multifocal
Myoclonus
Myoclonus, action
Dystonia (any or unspecified)
Show more (+2)
n.a.
c.233-1G>T: het
Yes
n.a.
n.a.
n.a.
6
14
Yes
Myoclonus
Myoclonus, multifocal
Myoclonus, action
n.a.
c.233-1G>T: het
No
n.a.
n.a.
n.a.
14
42
Yes
Myoclonus at rest
Dystonia (any or unspecified)
Myoclonus
Myoclonus, multifocal
Myoclonus, action
Show more (+2)
n.a.
c.233-1G>T: het
Yes
n.a.
n.a.
n.a.
2
26
n.a.
Myoclonus, multifocal
Myoclonus at rest
Myoclonus, action
Myoclonus
Show more (+1)
n.a.
p.Arg237*: het