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Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review

OBJECTIVES: Autosomal recessive inherited ataxia with oculomotor apraxia type 2 (AOA2), caused by SETX gene mutations, is characterized by early-onset, progressive cerebellar ataxia, peripheral neuropathy, oculomotor apraxia and elevated serum α-fetoprotein (AFP). This study aimed to expand and summ...

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Detalles Bibliográficos
Autores principales:	Chen, Shuaishuai, Du, Juping, Jiang, Huihua, Zhao, Weibo, Wang, Na, Ying, Anna, Li, Jun, Chen, Shiyong, Shen, Bo, Zhou, Yuanlin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Molecular Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9684320/ https://www.ncbi.nlm.nih.gov/pubmed/36438189 http://dx.doi.org/10.3389/fnmol.2022.1019974

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