Ghosh, 2013: Overview of all reported DYT-SGCE patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
2
5
Yes
Myoclonus, axial
Myoclonus,generalized
Myoclonus
Dystonia (any or unspecified)
Myoclonus, Upper Limb
Dystonia, lower limb
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Myoclonus
p.Arg97*: het
Yes
n.a.
n.a.
1
4
n.a.
Myoclonus
Dystonia, lower limb
Myoclonus,generalized
Dystonia, upper limb
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Myoclonus, axial
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Myoclonus
Dystonia (any or unspecified)
p.Arg97*: het
Yes
n.a.
n.a.
2
3
Yes
Dystonia (any or unspecified)
Dystonia, truncal
Myoclonus
Dystonia, upper limb
Myoclonus, Upper Limb
Dystonia, cervical
Myoclonus, multifocal
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Dystonia (any or unspecified)
No
n.a.
n.a.
2
10
Yes
Myoclonus, multifocal
Dystonia (any or unspecified)
Dystonia, truncal
Myoclonus, cervical
Dystonia, upper limb
Myoclonus
Myoclonus, Upper Limb
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Dystonia (any or unspecified)
Myoclonus
p.Arg97*: het
Yes
n.a.
n.a.
1
11
Yes
Dystonia, upper limb
Dystonia, lower limb
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Myoclonus, lower limb
Myoclonus, multifocal
Dystonia, truncal
Myoclonus
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Dystonia (any or unspecified)
Myoclonus
p.Arg97*: het