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...

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Detalles Bibliográficos
Autores principales: Kuo, Chia-Yan, Yu, Pei Shan, Chao, Chih-Ying, Wang, Chun-Chieh, Fan, Wen-Lang, Wu, Yih-Ru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236026/
https://www.ncbi.nlm.nih.gov/pubmed/37096302
http://dx.doi.org/10.14802/jmd.22105

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236026/
https://www.ncbi.nlm.nih.gov/pubmed/37096302
http://dx.doi.org/10.14802/jmd.22105

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