Jain, 2016: 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
A
IND
4
5
No
Myoclonus
Dystonia (any or unspecified)
Myoclonus, multifocal
Writer's Cramp
Myoclonus, action
Myoclonus, cervical
Myoclonus, Upper Limb
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Myoclonus
Yes
A
IND
2
12
Yes
Myoclonus, cervical
Myoclonus,generalized
Myoclonus
Myoclonus, Upper Limb
Myoclonus, action
Myoclonus, axial
Myoclonus, lower limb
Dystonia (any or unspecified)
Writer's Cramp
Myoclonus at rest
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Myoclonus
p.Leu34Ser: het
No
A
IND
32
45
Yes
Myoclonus, multifocal
Myoclonus, action
Dystonia, cervical
Dystonia (any or unspecified)
Myoclonus
Myoclonus, Upper Limb
Myoclonus, cervical
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n.a.
p.Leu34Ser: het
No
A
IND
3
9
Yes
Myoclonus,generalized
Dystonia (any or unspecified)
Writer's Cramp
Myoclonus, cervical
Myoclonus, Upper Limb
Myoclonus at rest
Myoclonus, action
Myoclonus, axial
Myoclonus
Myoclonus, lower limb
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Myoclonus
p.Leu34Ser: het