Jain, 2016: Overview of all reported DYT-SGCE patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
A
IND
4
5
No
Writer's Cramp
Myoclonus
Myoclonus, multifocal
Dystonia (any or unspecified)
Myoclonus, action
Myoclonus, Upper Limb
Myoclonus, cervical
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Myoclonus
Yes
A
IND
2
12
Yes
Myoclonus, Upper Limb
Myoclonus, lower limb
Myoclonus at rest
Myoclonus,generalized
Myoclonus
Dystonia (any or unspecified)
Myoclonus, axial
Myoclonus, cervical
Myoclonus, action
Writer's Cramp
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Myoclonus
p.Leu34Ser: het
No
A
IND
32
45
Yes
Myoclonus, action
Myoclonus, Upper Limb
Myoclonus
Myoclonus, multifocal
Dystonia (any or unspecified)
Dystonia, cervical
Myoclonus, cervical
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n.a.
p.Leu34Ser: het
No
A
IND
3
9
Yes
Myoclonus, cervical
Myoclonus,generalized
Myoclonus, lower limb
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Myoclonus at rest
Myoclonus
Writer's Cramp
Myoclonus, action
Myoclonus, axial
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Myoclonus
p.Leu34Ser: het