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- Title
De Novo Missense Mutation of VPS16 in a Chinese Patient with Generalized Dystonia with Myoclonus.
- Authors
Gu, Xiaojing; Lin, Junyu; Hou, Yanbing; Zhang, Lingyu; Shang, Huifang
- Abstract
A missense variant of uncertain significance in a Chinese patient with segmental dystonia (cranial-cervical dystonia) was also reported.3 In the current study, we identified 1 likely pathogenic de novo rare missense variant in a Chinese patient with childhood-onset generalized dystonia with myoclonus, which has been rarely reported previously. Dystonia is a syndrome consisting of sustained or intermittent contraction of muscle that leads to abnormal movements or postures.
- Subjects
MYOCLONUS; CHINESE people; MISSENSE mutation; DYSTONIA
- Publication
Movement Disorders Clinical Practice, 2022, Vol 9, Issue 4, p551
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.13392