Nardocci, 2008: 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
ITA
2
19
Yes
Myoclonus,generalized
Myoclonus, cervical
Myoclonus, lower limb
Myoclonus, face
Myoclonus
Myoclonus, Upper Limb
Myoclonus, axial
Myoclonus, action
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n.a.
p.Arg102*: het
No
n.a.
C
ITA
12
41
Yes
Obssesive Compulsive Disorder
Myoclonus, face
Myoclonus
Myoclonus, multifocal
Myoclonus, Upper Limb
Myoclonus, cervical
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n.a.
c.233-1G>T: het
No
n.a.
C
ITA
6
47
Yes
Writer's Cramp
Dystonia (any or unspecified)
n.a.
c.663-1G>A: het
Yes
n.a.
C
ITA
2
8
No
Myoclonus, Upper Limb
Myoclonus, cervical
Myoclonus, action
Myoclonus, multifocal
Dystonia (any or unspecified)
Myoclonus
Dystonia, upper limb
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n.a.
c.826-1G>A: het
Yes
n.a.
C
ITA
6
14
Yes
Myoclonus
Myoclonus, Upper Limb
Myoclonus, cervical
Myoclonus, multifocal
Myoclonus, action
Show more (+2)
n.a.
c.233-1G>T: het