Valente, 2005: 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.
3
54
Yes
Dystonia (any or unspecified)
Dystonia, cervical
Myoclonus, axial
Myoclonus
Dystonia, lower limb
Dystonia, upper limb
Myoclonus, cervical
Myoclonus, lower limb
Myoclonus, Upper Limb
Myoclonus,generalized
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n.a.
p.Arg372*: het
Yes
♀
n.a.
n.a.
3
43
Yes
Dystonia (any or unspecified)
Myoclonus, multifocal
Dystonia, cervical
Myoclonus
Dystonia, upper limb
Myoclonus, cervical
Myoclonus, Upper Limb
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n.a.
p.Arg97*: het
Yes
♀
n.a.
n.a.
30
33
No
Myoclonus, multifocal
Myoclonus, Upper Limb
Myoclonus, cervical
Myoclonus
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n.a.
c.391-3T>C: het
Yes
♀
n.a.
n.a.
2
23
Yes
Myoclonus, cervical
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Dystonia, upper limb
Myoclonus
Myoclonus, multifocal
Dystonia, cervical
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n.a.
Yes
♀
n.a.
n.a.
0
22
Yes
Dystonia, cervical
Myoclonus
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Myoclonus, lower limb
Myoclonus, cervical
Myoclonus, multifocal
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n.a.
p.Arg97*: het
Yes
♂
n.a.
n.a.
11
35
No
Myoclonus
Myoclonus, multifocal
Dystonia (any or unspecified)
Dystonia, lower limb
Myoclonus, lower limb
Dystonia, upper limb
Myoclonus, cervical
Myoclonus, Upper Limb
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n.a.
p.Arg372*: het