Kosutzka, 2019: 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
n.a.
n.a.
14
50
n.a.
Dystonia (any or unspecified)
Myoclonus,generalized
Dystonia, upper limb
Dystonia, truncal
Myoclonus, axial
Myoclonus at rest
Myoclonus, Upper Limb
Myoclonus, action
Myoclonus
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n.a.
p.Gln286*: het
Yes
n.a.
n.a.
6
82
n.a.
Dystonia, upper limb
Myoclonus,generalized
Myoclonus, axial
Dystonia, cervical
Myoclonus
Myoclonus, action
Myoclonus at rest
Dystonia (any or unspecified)
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n.a.
Arg102*: het
No
n.a.
n.a.
4
24
n.a.
Myoclonus, action
Myoclonus
Myoclonus, Upper Limb
Dystonia, truncal
Dystonia, cervical
Myoclonus, axial
Myoclonus,generalized
Dystonia (any or unspecified)
Myoclonus at rest
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n.a.
p.Trp100*: het
Yes
n.a.
n.a.
7
33
n.a.
Myoclonus, action
Dystonia, upper limb
Myoclonus at rest
Myoclonus,generalized
Dystonia (any or unspecified)
Myoclonus, axial
Myoclonus
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n.a.
No
n.a.
n.a.
25
53
n.a.
Myoclonus,generalized
Myoclonus, action
Dystonia, truncal
Myoclonus, axial
Dystonia (any or unspecified)
Dystonia, upper limb
Myoclonus
Myoclonus at rest
Myoclonus, Upper Limb
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n.a.
p.Gln286*: het
Yes
n.a.
n.a.
3
28
n.a.
Dystonia (any or unspecified)
Dystonia, upper limb
Myoclonus, axial
Myoclonus
Myoclonus, Upper Limb
Myoclonus at rest
Myoclonus, action
Myoclonus,generalized
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n.a.
p.Trp100*: het
Yes
n.a.
n.a.
1
24
n.a.
Dystonia, cervical
Myoclonus at rest
Myoclonus
Myoclonus, action
Myoclonus, Upper Limb
Myoclonus, multifocal
Dystonia, upper limb
Dystonia (any or unspecified)
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n.a.
p.Arg102*: het
Yes
n.a.
n.a.
10
37
n.a.
Myoclonus
Myoclonus, multifocal
Myoclonus at rest
Dystonia (any or unspecified)
Dystonia, upper limb
Myoclonus, action
Myoclonus, Upper Limb
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n.a.
Yes
n.a.
n.a.
12
39
n.a.
Dystonia (any or unspecified)
Myoclonus, multifocal
Dystonia, lower limb
Myoclonus, face
Dystonia, cervical
Dystonia, upper limb
Myoclonus, cervical
Myoclonus at rest
Myoclonus, action
Myoclonus
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n.a.