Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review

Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene are associated with substantial clinical heterogeneity. Here, we report the first case of SYNE1 ataxia in Taiwan due to two novel truncating mutations. Our patient, a 53-year-old female, exhibited pure cerebellar ataxia with c.1922del...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Journal of movement disorders 2023-05, Vol.16 (2), p.202-206
Hauptverfasser:	Kuo, Chia-Yan, Yu, Pei Shan, Chao, Chih-Ying, Wang, Chun-Chieh, Fan, Wen-Lang, Wu, Yih-Ru
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!