Cargando…
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...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Korean Neurological Association
2018
|
| Materias: | |
| 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 |