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New insights into the phenotype of FARS2 deficiency.
Elise Vantroys, Austin Larson, Marisa Friederich, Kaz Knight, Michael A Swanson, Christopher A Powell, Joél Smet, Sarah Vergult, Boel De Paepe, Sara Seneca, Herbert Roeyers, Björn Menten, Michal Minczuk, Arnaud Vanlander, Johan Van Hove, Rudy Van Coster
May 31, 2018
Mutations in FARS2 are known to cause dysfunction of mitochondrial translation due to deficient aminoacylation of the mitochondrial phenylalanine tRNA. Here, we report three novel mutations in FARS2 found in two patients in a...
Early-onset epileptic encephalopathy FARS2 hereditary spastic paraplegia Mitochondria Mitochondrial aminoacyl-tRNA synthetase Neurogenic bladder Adolescent Amino Acyl-tRNA Synthetases Aminoacylation Brain Cells Cultured Epilepsy Exome Female FIBROBLASTS Heterozygote Humans Infant Magnetic Resonance Imaging Male Mitochondria Mitochondrial Proteins Muscle Skeletal Mutation Missense Oxygen Consumption Phenotype Phenylalanine-tRNA Ligase RNA Transfer Sequence Analysis DNA Spastic Paraplegia Hereditary