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...

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Detalles Bibliográficos
Autores principales: Sahai, Supreet K., Steiner, Rebecca E., Au, Margaret G., Graham, John M., Salamon, Noriko, Ibba, Michael, Pierson, Tyler M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Brief Communications
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

Internet

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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