Fernández-Pajarín, 2016: 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.
1
44
Yes
Dystonia, upper limb
Dystonia, lower limb
Dystonia (any or unspecified)
Myoclonus, axial
Myoclonus, Upper Limb
Myoclonus,generalized
Myoclonus, lower limb
Depression
Myoclonus
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Dystonia, lower limb
p.Cys258*: het
Yes
n.a.
n.a.
1
24
Yes
Myoclonus, lower limb
Myoclonus, cervical
Obssesive Compulsive Disorder
Myoclonus, action
Dystonia, lower limb
Myoclonus, multifocal
Myoclonus, Upper Limb
Dystonia, task-specific
Myoclonus
Dystonia (any or unspecified)
Dystonia, upper limb
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Myoclonus, lower limb
Yes
n.a.
n.a.
17
34
Yes
Dystonia, cervical
Myoclonus, Upper Limb
Myoclonus, axial
Writer's Cramp
Dystonia (any or unspecified)
Myoclonus,generalized
Myoclonus, cervical
Myoclonus
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Dystonia, cervical
p.Cys258*: het