Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare genetic disorder and is inherited in an autosomal recessive manner. It is mainly characterized by childhood-onset progressive cerebellar ataxia, with dysarthria and gait disturbance being the two most common and typical manifestations. Axonal se...

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Detalles Bibliográficos
Autores principales: Wu, Xuan, Dong, Nan, Liu, Zhensheng, Tang, Tieyu, Liu, Meirong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9479491/
https://www.ncbi.nlm.nih.gov/pubmed/36119692
http://dx.doi.org/10.3389/fneur.2022.873826

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9479491/
https://www.ncbi.nlm.nih.gov/pubmed/36119692
http://dx.doi.org/10.3389/fneur.2022.873826

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