FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei
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DOI: 10.1002/acn3.598
Abstract: 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… read more here.
Keywords: pure spastic; dentate nuclei; spastic paraplegia; presenting pure ... See more keywords