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