Cargando…
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...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
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 |