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A Comparison of Pathogenic Eukaryotic Elongation Factor 2 (EEF2) Variants in Spinocerebellar Ataxia 26 Versus De Novo Mutations
In this article, we present an eight-year-old boy with developmental delay and cerebellar symptoms who was found to have a de novo eukaryotic elongation factor 2 (EEF2) mutation on genetic testing. Previously, pathogenic mutations in EEF2 have been associated with spinocerebellar ataxia 26. An extre...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cureus
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9282719/ https://www.ncbi.nlm.nih.gov/pubmed/35847164 http://dx.doi.org/10.7759/cureus.26857 |