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FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei
Mutations in FARS2, the gene encoding the mitochondrial phenylalanine‐tRNA synthetase (mtPheRS), have been linked to a range of phenotypes including epileptic encephalopathy, developmental delay, and motor dysfunction. We report a 9‐year‐old boy with novel compound heterozygous variants of FARS2, pr...
Autores principales: | Sahai, Supreet K., Steiner, Rebecca E., Au, Margaret G., Graham, John M., Salamon, Noriko, Ibba, Michael, Pierson, Tyler M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144452/ https://www.ncbi.nlm.nih.gov/pubmed/30250868 http://dx.doi.org/10.1002/acn3.598 |
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