Carbon, 2013: Overview of all reported MYC/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.
10
42
n.a.
Myoclonus, Upper Limb
Myoclonus, axial
Dystonia, upper limb
Myoclonus, multifocal
Dystonia, lower limb
Myoclonus
Dystonia, cervical
Myoclonus,generalized
Dystonia (any or unspecified)
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n.a.
Yes
n.a.
n.a.
n.a.
3
20
n.a.
Myoclonus, multifocal
Myoclonus,generalized
Myoclonus, face
Myoclonus
Myoclonus, cervical
Myoclonus, lower limb
Myoclonus, axial
Dystonia (any or unspecified)
Myoclonus, Upper Limb
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n.a.
Yes
n.a.
n.a.
n.a.
12
45
n.a.
Myoclonus, Upper Limb
Myoclonus
n.a.
Yes
n.a.
n.a.
n.a.
4
26
n.a.
Myoclonus, axial
Myoclonus, lower limb
Dystonia, upper limb
Dystonia, cervical
Myoclonus, Upper Limb
Myoclonus,generalized
Myoclonus, cervical
Dystonia (any or unspecified)
Myoclonus
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n.a.
p.Arg102*: het
Yes
n.a.
n.a.
n.a.
8
27
n.a.
Myoclonus
Myoclonus,generalized
Myoclonus, Upper Limb
Myoclonus, axial
Dystonia, upper limb
Myoclonus, multifocal
Dystonia (any or unspecified)
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n.a.
No
n.a.
n.a.
n.a.
4
25
n.a.
Myoclonus
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Dystonia, lower limb
Dystonia, upper limb
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n.a.