Lange, 2017: Overview of all reported DYT-KMT2B patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
DEU
|
4
|
11
|
n.a.
|
Myoclonus
Dystonia, hand Dystonia (any or unspecified) Tremor, limb Dystonia, limb Dystonia, lower face Dysphonia Dystonia, axial Dysarthria Cognitive impairment Dystonia, generalized Torticollis Dystonia, craniofacial Dystonia, cervical Dystonia, leg Tremor (any or unspecified) Dystonia, oromandibular Dystonic tremor Dystonia, arm Microcephaly Show more (+17) |
n.a.
|