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,generalized
Myoclonus, axial
Myoclonus, Upper Limb
Dystonia, upper limb
Dystonia, cervical
Dystonia (any or unspecified)
Myoclonus, multifocal
Dystonia, lower limb
Myoclonus
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n.a.
Yes
n.a.
n.a.
n.a.
3
20
n.a.
Myoclonus, multifocal
Myoclonus
Myoclonus, cervical
Myoclonus, face
Dystonia (any or unspecified)
Myoclonus, Upper Limb
Myoclonus, lower limb
Myoclonus, axial
Myoclonus,generalized
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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, Upper Limb
Myoclonus,generalized
Dystonia, upper limb
Myoclonus
Myoclonus, lower limb
Dystonia, cervical
Myoclonus, cervical
Dystonia (any or unspecified)
Myoclonus, axial
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n.a.
p.Arg102*: het
Yes
n.a.
n.a.
n.a.
8
27
n.a.
Myoclonus,generalized
Myoclonus, Upper Limb
Myoclonus
Myoclonus, axial
Myoclonus, multifocal
Dystonia (any or unspecified)
Dystonia, upper limb
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n.a.
No
n.a.
n.a.
n.a.
4
25
n.a.
Myoclonus, Upper Limb
Myoclonus
Dystonia (any or unspecified)
Dystonia, upper limb
Dystonia, lower limb
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n.a.