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.
Myoclonus
Dystonia, upper limb
Myoclonus, axial
Myoclonus at rest
Dystonia, truncal
Myoclonus, action
Myoclonus,generalized
Myoclonus, Upper Limb
Dystonia (any or unspecified)
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n.a.
p.Gln286*: het
Yes
n.a.
n.a.
6
82
n.a.
Dystonia (any or unspecified)
Myoclonus, action
Dystonia, cervical
Myoclonus,generalized
Myoclonus at rest
Dystonia, upper limb
Myoclonus, axial
Myoclonus
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n.a.
Arg102*: het
No
n.a.
n.a.
4
24
n.a.
Myoclonus, action
Dystonia (any or unspecified)
Myoclonus
Dystonia, cervical
Dystonia, truncal
Myoclonus,generalized
Myoclonus, Upper Limb
Myoclonus at rest
Myoclonus, axial
Show more (+6)
n.a.
p.Trp100*: het
Yes
n.a.
n.a.
7
33
n.a.
Myoclonus at rest
Dystonia, upper limb
Dystonia (any or unspecified)
Myoclonus,generalized
Myoclonus, action
Myoclonus, axial
Myoclonus
Show more (+4)
n.a.
No
n.a.
n.a.
25
53
n.a.
Myoclonus, axial
Myoclonus, action
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Dystonia, truncal
Myoclonus
Dystonia, upper limb
Myoclonus at rest
Myoclonus,generalized
Show more (+6)
n.a.
p.Gln286*: het
Yes
n.a.
n.a.
3
28
n.a.
Dystonia (any or unspecified)
Myoclonus, action
Myoclonus, axial
Myoclonus,generalized
Myoclonus
Dystonia, upper limb
Myoclonus, Upper Limb
Myoclonus at rest
Show more (+5)
n.a.
p.Trp100*: het
Yes
n.a.
n.a.
1
24
n.a.
Dystonia, cervical
Myoclonus at rest
Myoclonus, multifocal
Dystonia, upper limb
Myoclonus, action
Dystonia (any or unspecified)
Myoclonus
Myoclonus, Upper Limb
Show more (+5)
n.a.
p.Arg102*: het
Yes
n.a.
n.a.
10
37
n.a.
Myoclonus, action
Dystonia (any or unspecified)
Myoclonus, multifocal
Myoclonus, Upper Limb
Myoclonus at rest
Myoclonus
Dystonia, upper limb
Show more (+4)
n.a.
Yes
n.a.
n.a.
12
39
n.a.
Myoclonus at rest
Myoclonus, face
Dystonia, upper limb
Myoclonus, action
Myoclonus, multifocal
Dystonia, cervical
Dystonia, lower limb
Myoclonus, cervical
Dystonia (any or unspecified)
Myoclonus
Show more (+7)
n.a.