A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2

BACKGROUND AND PURPOSE: Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in two families from Pakistan. METHODS: Detailed clinical investigations were carri...

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Detalles Bibliográficos
Autores principales: Tariq, Huma, Imran, Rashid, Naz, Sadaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Neurological Association 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6172491/
https://www.ncbi.nlm.nih.gov/pubmed/30198223
http://dx.doi.org/10.3988/jcn.2018.14.4.498

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6172491/
https://www.ncbi.nlm.nih.gov/pubmed/30198223
http://dx.doi.org/10.3988/jcn.2018.14.4.498

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