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
Dystonia, lower limb
Dystonia, cervical
Myoclonus, multifocal
Myoclonus, axial
Dystonia (any or unspecified)
Myoclonus, Upper Limb
Dystonia, upper limb
Myoclonus,generalized
Show more (+6)
n.a.
Yes
n.a.
n.a.
n.a.
3
20
n.a.
Myoclonus, Upper Limb
Myoclonus, cervical
Myoclonus
Myoclonus, axial
Myoclonus, lower limb
Myoclonus, face
Myoclonus,generalized
Dystonia (any or unspecified)
Myoclonus, multifocal
Show more (+6)
n.a.
Yes
n.a.
n.a.
n.a.
12
45
n.a.
Myoclonus
Myoclonus, Upper Limb
n.a.
Yes
n.a.
n.a.
n.a.
4
26
n.a.
Dystonia (any or unspecified)
Dystonia, upper limb
Myoclonus,generalized
Myoclonus, lower limb
Myoclonus
Myoclonus, axial
Dystonia, cervical
Myoclonus, cervical
Myoclonus, Upper Limb
Show more (+6)
n.a.
p.Arg102*: het
Yes
n.a.
n.a.
n.a.
8
27
n.a.
Myoclonus
Myoclonus, axial
Myoclonus, multifocal
Dystonia (any or unspecified)
Dystonia, upper limb
Myoclonus, Upper Limb
Myoclonus,generalized
Show more (+4)
n.a.
No
n.a.
n.a.
n.a.
4
25
n.a.
Dystonia, lower limb
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Dystonia, upper limb
Myoclonus
Show more (+2)
n.a.