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